Calpainopathy: How broad is the spectrum of clinical variability?

Journal of Molecular Neuroscience

Volumn 21, Issue 3, 2003, Pages 233-236

  Starling, Alessandra ^a   De Paula, Flavia ^a   Silva, Helga ^a   Vainzof, Mariz ^a   Zatz, Mayana ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Atypical calpainopathy; Inclusion criteria; Spinal muscular atrophy

Indexed keywords

CALPAIN 3; CREATINE KINASE; SURVIVAL MOTOR NEURON PROTEIN;

ADULT; AREFLEXIA; ARTICLE; ATROPHY; AUTOSOMAL RECESSIVE DISORDER; CALPAINOPATHY; CLINICAL ARTICLE; CREATINE KINASE BLOOD LEVEL; ELECTROMYOGRAPHY; EXON; FASCICULATION; FEMALE; GENE DELETION; GENE MUTATION; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; HUMAN TISSUE; HYPOREFLEXIA; LIMB GIRDLE MUSCULAR DYSTROPHY; LINKAGE ANALYSIS; MALE; MOLECULAR CLONING; MOTOR NEURON DISEASE; MUSCLE HYPOTONIA; MUSCLE WEAKNESS;

ADULT; BIOPSY; CALPAIN; CHROMOSOME MAPPING; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; DNA MUTATIONAL ANALYSIS; ELECTROMYOGRAPHY; FEMALE; GENE DELETION; GENETIC SCREENING; HUMANS; ISOENZYMES; MALE; MIDDLE AGED; MUSCLE FIBERS; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR ATROPHY, SPINAL; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; RNA-BINDING PROTEINS; VARIATION (GENETICS);

EID: 4344572347     PISSN: 08958696     EISSN: None     Source Type: Journal    
DOI: 10.1385/JMN:21:3:233     Document Type: Article

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