(Q34464423)

2 August 2017

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title

Clinical and genetic aspects of distal myopathies (English)

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distal muscular dystrophy

2 August 2017

main subject

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Saperstein DS

1

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2 August 2017

Amato AA

series ordinal

2

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2 August 2017

Barohn RJ

series ordinal

3

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2 August 2017

publication date

1 November 2001

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2 August 2017

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2 August 2017

volume

24

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2 August 2017

issue

11

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2 August 2017

page(s)

1440-1450

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Distal muscular dystrophy.

2 August 2017

cites work

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Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features.

21 January 2018

1 reference

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A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p

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Hereditary distal myopathy with onset in early infancy. Observation of a family

21 January 2018

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Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14

21 January 2018

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Welander's distal myopathy: clinical, neurophysiological and muscle biopsy observations in young and middle aged adults with early symptoms

21 January 2018

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Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene

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Histochemical and histopathological changes in skeletal muscle in late-onset hereditary distal myopathy (Welander)

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Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31

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High serum levels of creatine kinase: asymptomatic prelude to distal myopathy

21 January 2018

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Desmin-related neuromuscular disorders

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Missense mutations in desmin associated with familial cardiac and skeletal myopathy

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Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

21 January 2018

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Polymyositis presenting as distal muscle weakness. A case report.

21 January 2018

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Transient autobiographic amnesia: EEG and single-photon emission CT evidence of an organic etiology

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Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.

21 January 2018

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Autosomal recessive distal myopathy

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Distal Vacuolar Myopathy With Complete Heart Block

21 January 2018

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A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

21 January 2018

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Inclusion body myositis and welander distal myopathy: a clinical, neurophysiological and morphological comparison

21 January 2018

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Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients

21 January 2018

1 reference

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

21 January 2018

1 reference

Distal myopathy: Electron microscopic and histochemical studies

21 January 2018

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Distal myopathies: clinical and molecular diagnosis and classification

21 January 2018

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Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy

21 January 2018

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Sporadic distal myopathy with early adult onset

21 January 2018

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Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case

21 January 2018

1 reference

Rimmed vacuolar distal myopathy. An ultrastructural study

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A dysfunctional desmin mutation in a patient with severe generalized myopathy

21 January 2018

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Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation

21 January 2018

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Unusual familial cardiomyopathy with storage of intermediate filaments in the cardiac muscular cells

21 January 2018

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Vacuolar myopathy sparing the quadriceps

21 January 2018

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Vimentin and desmin in maturing skeletal muscle and developmental myopathies

21 January 2018

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A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation

21 January 2018

1 reference

A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates.

21 January 2018

1 reference

Distal muscular dystrophy in an English family

21 January 2018

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Distal myopathy with rimmed vacuole formation. A follow-up study

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Adult onset scapuloperoneal myopathy

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Tibial muscular dystrophy--from clinical description to linkage on chromosome 2q31.

21 January 2018

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Muscular dystrophy with separate clinical phenotypes in a large family

21 January 2018

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Nonvacuolar myopathy in a large family with both late adult onset distal myopathy and severe proximal muscular dystrophy

21 January 2018

1 reference

Polymyositis presenting with chronic progressive distal muscular weakness

21 January 2018

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A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy

21 January 2018

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On the classification, natural history and treatment of the myopathies.

21 January 2018

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Titin: major myofibrillar components of striated muscle

21 January 2018

1 reference

Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)

21 January 2018

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Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy

21 January 2018

1 reference

Distal myopathies and dystrophies

21 January 2018

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Genetic heterogeneity in Miyoshi-type distal muscular dystrophy

21 January 2018

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Distribution of muscle degeneration in Welander distal myopathy--a magnetic resonance imaging and muscle biopsy study

21 January 2018

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Genetic linkage of Welander distal myopathy to chromosome 2p13

21 January 2018

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Peripheral neuropathy following amitriptyline overdose

21 January 2018

1 reference

The wide spectrum of myofibrillar myopathy suggests a multifactorial etiology and pathogenesis

21 January 2018

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Various types of hereditary inclusion body myopathies map to chromosome 9p1-q1

21 January 2018

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New developments in hereditary inclusion body myopathies

21 January 2018

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Overview of distal myopathies: from the clinical to the molecular

21 January 2018

1 reference

Adult acid maltase deficiency

21 January 2018

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Autosomal recessive distal dystrophy

21 January 2018

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Late distal myopathy. Report of a case

21 January 2018

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Sensory involvement in distal myopathy (Welander)

21 January 2018

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Neurogenic involvement in distal myopathy (Welander). Histochemical and morphological observations on muscle and nerve biopsies

21 January 2018

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Intranuclear and cytoplasmic filamentous inclusions in distal myopathy (Welander)

21 January 2018

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Cytoplasmic body myopathy: familial cases with accumulation of desmin and dystrophin. An immunohistochemical, immunoelectron microscopic and biochemical study

21 January 2018

1 reference

Myopathia distalis tarda hereditaria

21 January 2018

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The first European family with tibial muscular dystrophy outside the Finnish population

21 January 2018

1 reference

A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments

21 January 2018

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Autosomal dominant distal myopathy not linked to the known distal myopathy loci

21 January 2018

1 reference

Mallory body-like inclusions in a hereditary congenital neuromuscular disease

21 January 2018

1 reference

Autosomal dominant ?spheroid body myopathy?

21 January 2018

1 reference

Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene

21 January 2018

1 reference

Unusual course of nemaline myopathy

21 January 2018

1 reference

Hereditary distal myopathy with granulo-filamentous cytoplasmic inclusions containing desmin, dystrophin and vimentin

21 January 2018

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Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship

21 January 2018

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Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9

21 January 2018

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Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy

21 January 2018

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A new type of distal myopathy in two brothers

21 January 2018

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Evidence against location of the gene for facioscapulohumeral muscular dystrophy on the distal long arm of chromosome 14

21 January 2018

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Hereditary Distal Myopathy With Onset in Infancy

21 January 2018

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Late onset hereditary distal myopathy

21 January 2018

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Hereditary distal myopathy with filamentous inclusions

21 January 2018

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Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q

21 January 2018

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Computerized tomography and magnetic resonance muscle imaging in Miyoshi's myopathy

21 January 2018

1 reference

Rimmed vacuolar distal myopathy: a clinical, electrophysiological, histopathological and computed tomographic study of seven cases

21 January 2018

1 reference

Metabolic implications of distal atrophy. Carbohydrate metabolism in centronuclear myopathy

21 January 2018

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Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments

21 January 2018

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Myofibrillar Myopathy. III. Abnormal Expression of Cyclin-dependent Kinases and Nuclear Proteins

21 January 2018

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Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases

21 January 2018

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Distal myopathy with rimmed vacuoles

21 January 2018

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Autosomal recessive distal muscular dystrophy: a comparative study with distal myopathy with rimmed vacuole formation

21 January 2018

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Late onset foot-drop muscular dystrophy with rimmed vacuoles

21 January 2018

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Emery-dreifuss muscular dystrophy

21 January 2018

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Distal muscular dystrophy with autosomal recessive inheritance

21 January 2018

1 reference

The spectrum of familial inclusion body myopathies in 13 families and a description of a quadriceps-sparing phenotype in non-Iranian Jews

21 January 2018

1 reference

Scapuloperoneal syndromes. Absence of linkage to the 4q35 FSHD locus

21 January 2018

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Imaging methods reveal unexpected patchy lesions in late onset distal myopathy

21 January 2018

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Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients

21 January 2018

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Distal myopathy with onset in early infancy

21 January 2018

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An autosomal dominant early adult-onset distal muscular dystrophy

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/MUS.1167

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2 August 2017

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