Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings

Details

Serval ID
serval:BIB_887BF9E52753
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings
Journal
Muscle and Nerve
Author(s)
Penisson-Besnier  I., Richard  I., Dubas  F., Beckmann  J. S., Fardeau  M.
ISSN
0148-639X (Print)
Publication state
Published
Issued date
08/1998
Volume
21
Number
8
Pages
1078-80
Notes
Case Reports
Journal Article --- Old month value: Aug
Abstract
Two siblings originating from Reunion Island were affected by a limb-girdle muscular dystrophy (LGMD) type 2A and carried the same two mutations in the calpain gene: 946-1 AG-->AA, affecting a splice site, and S744G. They demonstrated the clinical variability possible with calpain-3 mutations. Onset was around 20 years of age in each of them. The girl's symptoms mimicked a metabolic myopathy, while her brother, at the same age, presented a classical phenotype of LGMD in an advanced functional stage.
Keywords
Adult Atrophy Calpain/*deficiency/*genetics/metabolism Family Health Female Humans Male Muscle Weakness/genetics/metabolism/pathology Muscle, Skeletal/enzymology/pathology/physiopathology Muscular Dystrophies/*genetics/*metabolism/pathology Nuclear Family Phenotype Reunion
Pubmed
Web of science
Create date
25/01/2008 16:18
Last modification date
20/08/2019 14:47
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