Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities

Acta Neuropathologica

Volumn 125, Issue 6, 2013, Pages 917-919

  Henderson, Matthew ^a   De Waele, Liesbeth ^b   Hudson, Judith ^b   Eagle, Michelle ^b   Sewry, Caroline ^c   Marsh, Julie ^a   Charlton, Richard ^a   He, Langping ^d   Blakely, Emma L ^d   Horrocks, Iain ^e   Stewart, William ^f   Taylor, Robert W ^d   Longman, Cheryl ^f   Bushby, Kate ^b   Barresi, Rita ^a,b  

^a NEWCASTLE DENTAL HOSPITAL   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL   (United Kingdom)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^f SOUTHERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA CRYSTALLIN; CREATINE KINASE; CYTOCHROME C OXIDASE; DESMIN; FILAMIN; FILAMIN C; MYOSIN; MYOTILIN; PLECTIN; PROTEIN; PROTEIN P62; UNCLASSIFIED DRUG; VALOSIN CONTAINING PROTEIN;

AUTOSOMAL RECESSIVE DESMINOPATHY; CASE REPORT; CHILD; CLINICAL FEATURE; CONTRACTURE; CREATINE KINASE BLOOD LEVEL; DES GENE; FATHER; FEMALE; FORCED VITAL CAPACITY; GENE MUTATION; HETEROZYGOTE; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; HYPERTROPHY; LETTER; MALE; MOTHER; MUSCLE BIOPSY; MUSCLE FATIGUE; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SCHOOL CHILD; SCOLIOSIS; SEQUENCE ANALYSIS; SIBLING;

CHILD; CHILD, PRESCHOOL; DESMIN; FEMALE; HUMANS; INTERMEDIATE FILAMENTS; MALE; MITOCHONDRIA, MUSCLE; MUSCULAR DYSTROPHIES;

EID: 84878533407     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-013-1113-x     Document Type: Letter

References (9)

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