Limb girdle muscular dystrophy due to LAMA2 mutations: Diagnostic difficulties due to associated peripheral neuropathy

Neuromuscular Disorders

Volumn 24, Issue 8, 2014, Pages 677-683

  Chan, Sophelia H S ^a   Foley, A Reghan ^a   Phadke, Rahul ^a   Mathew, Ann Agnes ^a   Pitt, Matthew ^b   Sewry, Caroline ^a,c   Muntoni, Francesco ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL   (United Kingdom)

Author keywords

Congenital muscular dystrophy; Laminin 2; Laminin 5; Limb girdle muscular dystrophy; Merosin deficient; Peripheral neuropathy

Indexed keywords

CREATINE KINASE; LAMININ ALPHA2; LAMININ; STOP CODON;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; DEMYELINATING NEUROPATHY; DIAGNOSTIC TEST; DIFFERENTIAL DIAGNOSIS; DOWN REGULATION; ELECTROPHYSIOLOGICAL PROCEDURES; FEMALE; GENE DELETION; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCATION; GENETIC MARKER; HUMAN; HUMAN TISSUE; LAMA2 GENE; LIMB GIRDLE MUSCULAR DYSTROPHY; MOTOR DYSFUNCTION; MOTOR NERVE; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN DEPLETION; PROTEIN DETERMINATION; PROTEIN LOCALIZATION; PROXIMAL WEAKNESS; SCHOOL CHILD; SENSORITOMOR DEMYELINATING POLYNEUROPATHY; TISSUE DISTRIBUTION; UPREGULATION; WEAKNESS; WHITE MATTER LESION; BIOPSY; BRAIN; GENETICS; HETEROZYGOTE; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; NERVE CONDUCTION; PATHOLOGY; PATHOPHYSIOLOGY; PERIPHERAL NERVOUS SYSTEM DISEASES; SKELETAL MUSCLE; STOP CODON;

BIOPSY; BRAIN; CODON, NONSENSE; DIAGNOSIS, DIFFERENTIAL; FEMALE; HETEROZYGOTE; HUMANS; LAMININ; MAGNETIC RESONANCE IMAGING; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; NEURAL CONDUCTION; PERIPHERAL NERVOUS SYSTEM DISEASES;

EID: 84903940255     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.05.008     Document Type: Article

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