Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes

Neuromuscular Disorders

Volumn 22, Issue 6, 2012, Pages 534-540

  Ricci, Giulia ^a   Scionti, Isabella ^b   Alì, Greta ^a   Volpi, Leda ^a   Zampa, Virna ^a   Fanin, Marina ^c   Angelini, Corrado ^c   Politano, Luisa ^d   Tupler, Rossella ^b   Siciliano, Gabriele ^a  

^a UNIVERSITY OF PISA   (Italy)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^c UNIVERSITY OF PADOVA   (Italy)

^d SECOND UNIVERSITY OF NAPLES   (Italy)

Author keywords

Caveolinopathy; Facioscapulohumeral dystrophy; Limb girdle muscular dystrophy type 1C; Rippling muscle disease

Indexed keywords

CAVEOLIN 3; CREATINE KINASE;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; CASE REPORT; CAV3 GENE; CAVEOLINOPATHY; CHROMOSOME 4Q; CREATINE KINASE BLOOD LEVEL; D4Z4 GENE; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DNA DETERMINATION; DNA SEQUENCE; ELECTROMYOGRAPHY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FATIGUE; GENE DELETION; GENETIC POLYMORPHISM; HETEROZYGOSITY; HUMAN; IMAGE ANALYSIS; IMMUNOHISTOCHEMISTRY; MALE; MARKER GENE; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE CRAMP; MUSCLE DISEASE; MUSCLE STIFFNESS; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; OPEN READING FRAME; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PULSED FIELD GEL ELECTROPHORESIS; RIPPLING MUSCLE DISEASE; RNA SPLICING; SIMPLE SEQUENCE LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTHERN BLOTTING; STAINING;

ALLELES; CAVEOLIN 3; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; PHENOTYPE;

EID: 84860580533     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.12.001     Document Type: Article

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