MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy

Neurology

Volumn 75, Issue 8, 2010, Pages 732-741

  Muelas, N ^a,b   Hackman, P ^d   Luque, H ^d   Garces Sanchez M ^a,b   Azorin I ^a,b   Suominen, T ^a,b   Sevilla, T ^e   Mayordomo, F ^a,b   Gomez L ^a,b   Marti P ^a,b   Millán, J María ^a,c   Udd, B ^d,e,f   Vilchez J J ^a  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^d UNIVERSITY OF HELSINKI   (Finland)

^e TAMPERE UNIVERSITY HOSPITAL   (Finland)

^f Vasa Central Hospital   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CARDIAC MYOSIN; MYH7 PROTEIN, HUMAN; MYOSIN HEAVY CHAIN;

ADULT; ARTICLE; CLINICAL ARTICLE; CONGESTIVE CARDIOMYOPATHY; DISTAL MYOPATHY; ELECTROMYOGRAPHY; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MEDICAL RECORD; MITOCHONDRIAL MYOPATHY; MOTOR UNIT POTENTIAL; MULTIMINICORE DISEASE; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE WEAKNESS; MYALGIA; MYH7 GENE; MYOPATHY; PRIORITY JOURNAL; SARCOPLASMIC RETICULUM; SKELETON MALFORMATION; WHEELCHAIR; ADOLESCENT; CHILD; FEMALE; GENETIC PREDISPOSITION; GENETICS; HOSPITALIZATION; INFANT; MALE; MIDDLE AGED; NEWBORN; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD;

ADOLESCENT; ADULT; CARDIAC MYOSINS; CHILD; CHILD, PRESCHOOL; DISTAL MYOPATHIES; FEMALE; GENE DELETION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MYOSIN HEAVY CHAINS; PEDIGREE; PHENOTYPE; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 77957956350     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181eee4d5     Document Type: Article

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