Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus

Neuromuscular Disorders

Volumn 21, Issue 5, 2011, Pages 338-344

  Hackman, Peter ^a   Sandell, Satu ^b,c   Sarparanta, Jaakko ^a   Luque, Helena ^a   Huovinen, Sanna ^b   Palmio, Johanna ^b   Paetau, Anders ^d   Kalimo, Hannu ^d,e   Mahjneh, Ibrahim ^f   Udd, Bjarne ^a,b,g  

^a UNIVERSITY OF HELSINKI   (Finland)

^b TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^c SEINÄJOKI CENTRAL HOSPITAL   (Finland)

^d HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^e UNIVERSITY OF TURKU   (Finland)

^f UNIVERSITY OF OULU   (Finland)

^g VAASA CENTRAL HOSPITAL   (Finland)

Author keywords

Autosomal dominant muscular dystrophy; Late adult onset; LGMD1; Muscle imaging; Muscle weakness; Vacuolar myopathy

Indexed keywords

CREATINE KINASE;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 7Q; CLINICAL ARTICLE; CREATINE KINASE BLOOD LEVEL; FAMILY; FEMALE; FINLAND; GENE LOCUS; GENE SEQUENCE; GENETIC LINKAGE; GENOTYPE; HAPLOTYPE; HEART FUNCTION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MUSCLE WEAKNESS; PELVIC GIRDLE; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY FUNCTION; SHOULDER GIRDLE; WALKING DIFFICULTY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 7; CREATINE KINASE; ELECTROCARDIOGRAPHY; ELECTROMYOGRAPHY; FAMILY HEALTH; FEMALE; FINLAND; GENETIC LINKAGE; GENOTYPE; HUMANS; MALE; MOLECULAR BIOLOGY; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; PHENOTYPE; YOUNG ADULT;

EID: 79955466811     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.02.008     Document Type: Article

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