Autosomal dominant limb-girdle muscular dystrophy: Leyden–Möbius pelvifemoral form

Abstract

The paper considers current approaches to the clinical laboratory diagnosis of limb-girdle muscular dystrophy with emphasis on its autosomal dominant forms. The authors describe their clinical observation of a case of late diagnosis of the pelvifemoral form of autosomal dominant limbgirdle muscular dystrophy in a 37-year-old patient.

Keywords

• neuromuscular disorder
• erb's muscular dystrophy
• limb-girdle muscular dystrophy
• progressive muscular dystrophy
• myotilinopathy
• laminopathy
• caveolinopathy
• human genetics
• cardiomyopathy
• muscle magnetic resonance imaging