## 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
Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations
✍ Scribed by Bruno F. Gavassini; Nicola Carboni; Jørgen E. Nielsen; Else R. Danielsen; Carsten Thomsen; Kirsten Svenstrup; Luca Bello; Maria Antonietta Maioli; Giovanni Marrosu; Anna Filomena Ticca; Marco Mura; Maria Giovanna Marrosu; Gianni Soraru; Corrado Angelini; John Vissing; Elena Pegoraro
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 654 KB
- Volume
- 44
- Category
- Article
- ISSN
- 0148-639X
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## Abstract The metabolic differences between the muscle biopsies of patients with limb girdle muscular dystrophy (LGMD) and normal controls were characterized using high‐resolution ^1^H and ^13^C NMR spectroscopy. In all, 44 metabolites were unambiguously assigned in the perchloric acid extracts o
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
Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of disorders affecting primarily the shoulder and pelvic girdles. Autosomal dominant and recessive forms have been identified; 8 have been mapped and 1 more has been postulated on the basis of exclusion of linkage. An autosomal recessive