Autosomal dominant congenital fibre type disproportion: A clinicopathological and imaging study of a large family

Brain

Volumn 128, Issue 7, 2005, Pages 1716-1727

  Sobrido, M J ^a,c   Fernandez J M ^b   Fontoira, E ^b   Perez Sousa C ^d   Cabello, A ^e   Castro, M ^b   Teijeira, S ^a   Alvarez S ^a   Mederer, S ^b   Rivas, E ^a   Seijo Martinez M ^b   Navarro, C ^a  

^a HOSPITAL DO MEIXOEIRO   (Spain)

^b Complexo Hospitalario Xeral Cíes ^*  (Spain)

^c Fundacion Publica Galega de Medicina Xenomica   (Spain)

^d Universidad de La Coruña   (Spain)

^e HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

Autosomal dominant; Congenital fibre type disproportion; Congenital myopathy; Muscle MRI

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; CONGENITAL FIBRE TYPE DISPROPORTION; CONGENITAL MALFORMATION; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DISEASE COURSE; DISEASE SEVERITY; DISEASE TRANSMISSION; ELECTROMYOGRAPHY; FAMILIAL DISEASE; FEMALE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMAGING; INFANCY; LIMB DISEASE; MALE; MOBILIZATION; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE WEAKNESS; MYOPATHY; NERVE CONDUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; PENETRANCE; PRIORITY JOURNAL; CASE REPORT; DOMINANT GENE; ELECTROPHYSIOLOGY; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; PATHOLOGY; PEDIGREE; SPAIN;

ADULT; AGED; AGED, 80 AND OVER; ELECTROPHYSIOLOGY; FEMALE; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUSCLE FIBERS; MYOPATHIES, STRUCTURAL, CONGENITAL; PEDIGREE; SPAIN;

EID: 21944436501     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/awh511     Document Type: Article

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