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Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings
Author(s) -
PénissonBesnier Isabelle,
Richard Isabelle,
Dubas Frédéric,
Beckmann Jacques S.,
Fardeau Michel
Publication year - 1998
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/(sici)1097-4598(199808)21:8<1078::aid-mus15>3.0.co;2-q
Subject(s) - phenotype , calpain , limb girdle muscular dystrophy , muscular dystrophy , genetics , myopathy , age of onset , mutation , biology , gene , medicine , endocrinology , disease , biochemistry , enzyme
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. © 1998 John Wiley & Sons, Inc. Muscle Nerve 21:1078–1080, 1998.