A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): A challenge for future molecular studies

Neuromuscular Disorders

Volumn 6, Issue 3, 1996, Pages 143-150

  Meola, Giovanni ^a   Sansone, Valeria ^a   Radice, Stefania ^a   Skradski, Shana ^b   Ptacek, Louis ^b  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

Author keywords

Amplification; Ion channel disorders; Myotonia; Myotonic dystrophy; Trinucleotide expansion

Indexed keywords

CHLORIDE CHANNEL; CHLORIDE ION; SODIUM CHANNEL; SODIUM ION; TRINUCLEOTIDE;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAIN ATROPHY; CASE REPORT; CATARACT; ENDOCRINE DISEASE; FEMALE; GENE LOCUS; HEART MUSCLE CONDUCTION DISTURBANCE; HUMAN; HYPOGONADISM; MALE; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOPATHY; MYOTONIC DYSTROPHY; NUCLEOTIDE REPEAT; PHENOTYPE; PRIORITY JOURNAL; PROXIMAL MYOTONIC MYOPATHY; TEMPORAL LOBE;

EID: 0029945035     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/0960-8966(95)00040-2     Document Type: Article

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