Dysferlinopathy (LGMD2B): A 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations

Neuromuscular Disorders

Volumn 11, Issue 1, 2001, Pages 20-26

  Mahjneh, Ibrahim ^a   Marconi, Giampiero ^b   Bushby, Kate ^c   Anderson, Louise V B ^d   Tolvanen Mahjneh, Henna ^e   Somer, Hannu ^f  

^a KAINUU CENTRAL HOSPITAL   (Finland)

^b UNIVERSITY OF FLORENCE   (Italy)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e UNIVERSITY OF OULU   (Finland)

^f UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Dysferlinopathy; LGMD2B; Limb girdle muscular dystrophies; Muscle imaging

Indexed keywords

CREATINE KINASE; DYSFERLIN;

ADOLESCENT; ADULT; AGED; ARAB; ARM MUSCLE; ARTICLE; BICEPS BRACHII MUSCLE; CALPAINOPATHY; CLINICAL ARTICLE; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; DYSFERLINOPATHY; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; GAIT DISORDER; GASTROCNEMIUS MUSCLE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMAGING; LEG MUSCLE; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MIYOSHI MYOPATHY; NEUROMUSCULAR DISEASE; ONSET AGE; PRIORITY JOURNAL; SARCOGLYCANOPATHY; SHOULDER; SOLEUS MUSCLE; SYMPTOM; THIGH;

ADOLESCENT; ADULT; AGED; DISEASE PROGRESSION; FEMALE; FOLLOW-UP STUDIES; FRAMESHIFT MUTATION; GAIT DISORDERS, NEUROLOGIC; HOMOZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MOVEMENT DISORDERS; MUSCLE PROTEINS; MUSCLE WEAKNESS; MUSCULAR DYSTROPHIES; PHENOTYPE; POSTURE;

EID: 0035144864     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(00)00157-7     Document Type: Article

References (21)

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