(Q39126349)

9 September 2017

title

Phenotype and sarcoglycan expression in Tunisian LGMD 2C patients sharing the same del521-T mutation (English)

1 reference

9 September 2017

Kefi M

1

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9 September 2017

Amouri R

2

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9 September 2017

Driss A

3

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9 September 2017

Ben Hamida C

4

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9 September 2017

Ben Hamida M

5

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9 September 2017

Kunkel LM

6

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9 September 2017

Hentati F

7

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9 September 2017

publication date

1 December 2003

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9 September 2017

published in

Neuromuscular Disorders

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9 September 2017

volume

13

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9 September 2017

issue

10

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9 September 2017

page(s)

779-787

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

9 September 2017

cites work

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7 January 2021

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

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7 January 2021

Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

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7 January 2021

Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein

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7 January 2021

From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy

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7 January 2021

Association of dystrophin and an integral membrane glycoprotein.

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7 January 2021

The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies

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7 January 2021

Abnormal expression of laminin suggests disturbance of sarcolemma-extracellular matrix interaction in Japanese patients with autosomal recessive muscular dystrophy deficient in adhalin.

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7 January 2021

Confocal analysis of the dystrophin protein complex in muscular dystrophy

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7 January 2021

Limb-girdle muscular dystrophy 2C: clinical aspects

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7 January 2021

Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia

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7 January 2021

Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.

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7 January 2021

Maintenance of ambulation in childhood muscular dystrophy

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7 January 2021

Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation

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7 January 2021

Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy

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7 January 2021

Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse

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7 January 2021

Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus

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7 January 2021

Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics

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7 January 2021

Dominant modifier DFNM1 suppresses recessive deafness DFNB26

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7 January 2021

Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis.

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7 January 2021

Genetic mapping of a mouse modifier gene that can prevent ALS onset

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7 January 2021

The secretory phospholipase A2 gene is a candidate for the Mom1 locus, a major modifier of ApcMin-induced intestinal neoplasia

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7 January 2021

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

1 reference

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7 January 2021

Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations

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7 January 2021

Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900136-6

7 January 2021

Isolated loss of gamma-sarcoglycan: diagnostic implications in autosomal recessive limb-girdle muscular dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900136-6

7 January 2021

Primary γ-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile

1 reference

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7 January 2021

10.1016/S0960-8966(03)00136-6

Identifiers

DOI

1 reference

9 September 2017

1 reference