[Clinical and genetic heterogeneity of limb-girdle muscular dystrophy].
Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of dystrophies in which weakness and wasting initially appear at proximal groups of pelvic and shoulder girdles. Families in which LGMD is inherited as an autosomal recessive and rarely autosomal dominant trait were separated. Among autosomal recessive families, cases with rapid progression, called severe childhood autosomal recessive muscular dystrophy (SCARMD) were isolated. In some of these families linkage to chromosome 13 has been demonstrated. In other families especially those with relatively slower progression the genes were localised on chromosomes 2, 15. In families with adhalin mutations variability of clinical presentation is observed. In one of the described families with autosomal dominant inheritance the linkage to chromosome 5 has been established. Clinical and genetic studies of a large cohort of patients with limb-girdle muscular dystrophies enables the creation of new LGMD diagnostic criteria which facilitates proper genetic counselling.
Zespól Badawczo-Leczniczy Chorób Nerwowo-Mieśniowych Centrum Medycyny Doświadczalnej i Klinicznej PAN, Warszawa.
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D017668:Age of Onset; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003937:Diagnosis, Differential; D004576:Electromyography; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics*
Kliniczna i genetyczna heterogenność dystrofii obreczowo--kończynowej.