Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings

Détails

ID Serval
serval:BIB_887BF9E52753
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings
Périodique
Muscle and Nerve
Auteur(s)
Penisson-Besnier  I., Richard  I., Dubas  F., Beckmann  J. S., Fardeau  M.
ISSN
0148-639X (Print)
Statut éditorial
Publié
Date de publication
08/1998
Volume
21
Numéro
8
Pages
1078-80
Notes
Case Reports
Journal Article --- Old month value: Aug
Résumé
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.
Mots-clé
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
Création de la notice
25/01/2008 17:18
Dernière modification de la notice
20/08/2019 15:47
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