Limb girdle muscular dystrophy due to LAMA2 mutations: Diagnostic difficulties due to associated peripheral neuropathy - Chan, Sophelia H.S.; Foley, A. Reghan; Phadke, Rahul; Mathew, Ann Agnes; Pitt, Matthew; Sewry, Caroline; Muntoni, Francesco (Neuromuscular disorders : NMD, 2014)
Keywords: Biopsy; Brain - pathology; Codon, Nonsense; Congenital muscular dystrophy; Diagnosis, Differential; Female; Heterozygote; Humans; Laminin - genetics; Laminin α2; Laminin α5; Limb girdle muscular dystrophy; Magnetic Resonance Imaging; Merosin-deficient; Muscle, Skeletal - pathology; Muscle, Skeletal - physiopathology; Muscular Dystrophies, Limb-Girdle - diagnosis; Muscular Dystrophies, Limb-Girdle - genetics; Muscular Dystrophies, Limb-Girdle - pathology; Muscular Dystrophies, Limb-Girdle - physiopathology; Neural Conduction; Neurology; Peripheral Nervous System Diseases - diagnosis; Peripheral Nervous System Diseases - genetics; Peripheral Nervous System Diseases - pathology; Peripheral Nervous System Diseases - physiopathology; Peripheral neuropathy; Limb girdle muscular dystrophy; Laminin α5; Peripheral neuropathy; Congenital muscular dystrophy; Laminin α2; Merosin-deficient