A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: A clinical and pathological study

Neuromuscular Disorders

Volumn 17, Issue 4, 2007, Pages 330-337

  Pénisson Besnier, Isabelle ^a,b   Monnier, Nicole ^c   Toutain, Annick ^d   Dubas, Frédéric ^b   Laing, Nigel ^e,f  

^a Centre de Référence Maladies Neuromusculaires de l'Enfant et de l'Adulte   (France)

^b ANGERS UNIVERSITY HOSPITAL   (France)

^c GRENOBLE UNIVERSITY HOSPITAL   (France)

^d CHU BRETONNEAU   (France)

^e UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^f ROYAL PERTH HOSPITAL   (Australia)

Author keywords

Autosomal dominant; Clinical phenotype; Fibre typing; Nemaline myopathy; TPM3; Variable histopathological phenotype

Indexed keywords

ALPHA TROPOMYOSIN; ARGININE; HISTIDINE; SPIRONOLACTONE; TROPOMYOSIN; UNCLASSIFIED DRUG;

ACUTE HEART FAILURE; ADULT; ANAMNESIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CLINICAL FEATURE; ELECTROMYOGRAPHY; FAMILY; GENE MUTATION; GYNECOMASTIA; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERTENSION; HYPOREFLEXIA; MALE; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYOPATHY; NEMALINE MYOPATHY; PATHOPHYSIOLOGY; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; ARGININE; FAMILY HEALTH; FEMALE; HISTIDINE; HUMANS; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MIDDLE AGED; MUSCLE, SKELETAL; MUTATION; MYOPATHIES, NEMALINE; PEDIGREE; TROPOMYOSIN;

EID: 34047133846     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2007.01.017     Document Type: Article

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