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

Abstract:

:Mutations in the sarcoglycan (SG) genes cause a subset of limb-girdle muscular dystrophies (LGMD). We report a Spanish patient with progressive LGMD exhibiting an almost isolated loss of gamma-SG and a homozygous Delta521-T mutation in the gamma-SG gene. These results suggest that isolated loss of gamma-SG might remain undetected using only the alpha-SG antibody in routine muscle biopsy studies. Both alpha- and gamma-SG antibodies should be used in the diagnostic detection of patients with LGMD.

journal_name

Muscle Nerve

journal_title

Muscle & nerve

authors

Vorgerd M,Gencik M,Mortier J,Epplen JT,Malin JP,Mortier W

doi

10.1002/1097-4598(200103)24:3<421::aid-mus1016>3.0

subject

Has Abstract

pub_date

2001-03-01 00:00:00

pages

421-4

issue

3

eissn

0148-639X

issn

1097-4598

pii

10.1002/1097-4598(200103)24:3<421::AID-MUS1016>3.0

journal_volume

24

pub_type

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