A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey
✍ Scribed by Pervin Dincer; France Leturcq; Isabelle Richard; Federica Piccolo; Dilek Yalnizoàlu; Claudia De Toma; Zuhal Akçören; Odile Broux; Nathalie Deburgrave; Lydie Brenguier; Carinne Roudaut; J. Andoni Urtizberea; Daniel Jung; Ersin Tan; Marc Jeanpierre; Kevin P. Campbell; Jean-Claude Kaplan; Jacques S. Beckmann; Prof Haluk Topaloàlu
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 788 KB
- Volume
- 42
- Category
- Article
- ISSN
- 0364-5134
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## Communicated by Mireille Claustres Limb girdle muscular dystrophies (LGMD) are characterized by genetic and clinical heterogeneity: seven autosomal dominant and 12 autosomal recessive loci have so far been identified. Aims of this study were to evaluate the relative proportion of the different
We report on the clinical, pathological, and genetic features of 7 patients with limb-girdle muscular dystrophy type 2A (LGMD2A) from three Japanese families. The mean age of onset was 9.7 ± 3.1 years (mean ± SD), and loss of ambulance occurred at 38.5 ± 2.1 years. Muscle atrophy was predominant in