Adult onset multi/minicore myopathy associated with a mutation in the RYR1 gene [3]

Journal of Neurology

Volumn 251, Issue 1, 2004, Pages 102-104

  Pietrini, Vladimiro ^a   Marbini, Adriana ^a   Galli, Lucia ^b   Sorrentino, Vincenzo ^b  

^a UNIVERSITY OF PARMA   (Italy)

^b UNIVERSITY OF SIENA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN; ADENOSINE TRIPHOSPHATASE; CREATINE KINASE; CREATINE PHOSPHATE; DESMIN;

ADULT; ANAMNESIS; CASE REPORT; DISEASE ASSOCIATION; ELECTROMYOGRAM; EXPIRATORY FLOW RATE; FAMILY HISTORY; GASTROCNEMIUS MUSCLE; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; ISOKINETIC EXERCISE; LETTER; LUNG VOLUME; MALE; MORPHOLOGY; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE STRENGTH; MYOPATHY; NEUROMUSCULAR DISEASE; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; RYR1 GENE; SARCOMERE; SINGLE STRAND CONFORMATION POLYMORPHISM; SOCIAL EVOLUTION; SPIROMETRY; VASTUS MEDIALIS MUSCLE;

ARGININE; CREATINE KINASE; CYSTEINE; DNA MUTATIONAL ANALYSIS; ELECTROMYOGRAPHY; HUMANS; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SUCCINATE DEHYDROGENASE;

EID: 1142285237     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00415-004-0220-y     Document Type: Letter

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