(Q52141255)

23 April 2018

title

Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations. (English)

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23 April 2018

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I Mahjneh

1

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23 April 2018

G Marconi

2

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23 April 2018

K Bushby

3

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23 April 2018

L V Anderson

4

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23 April 2018

H Tolvanen-Mahjneh

5

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23 April 2018

H Somer

6

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23 April 2018

publication date

1 January 2001

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23 April 2018

published in

Neuromuscular Disorders

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23 April 2018

volume

11

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23 April 2018

issue

1

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23 April 2018

page(s)

20-26

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23 April 2018

The limb-girdle muscular dystrophies--proposal for a new nomenclature.

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

7 January 2021

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

7 January 2021

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

7 January 2021

β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

7 January 2021

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

7 January 2021

The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

7 January 2021

Genetic heterogeneity in Miyoshi-type distal muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

7 January 2021

Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

7 January 2021

Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

7 January 2021

Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

7 January 2021

10.1016/S0960-8966(00)00157-7

Identifiers

DOI

1 reference

23 April 2018

PubMed ID

11166162

1 reference

23 April 2018