Bethlem myopathy: Long-term follow-up identifies COL6 mutations predicting severe clinical evolution

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 86, Issue 12, 2015, Pages 1337-1346

  Deconinck, N ^a,b   Richard, P ^b,c   Allamand, V ^c,d,e   Behin, A ^b   Laforet P ^b   Ferreiro, A ^b,c,e   De Becdelievre, A ^b   Ledeuil, C ^b   Gartioux, C ^c,d,e   Nelson, I ^c,d,e   Carlier, R Y ^f   Carlier, P ^b   Wahbi, K ^b,c,d,e   Romero, N ^b   Zabot, M T ^g   Bouhour, F ^h   Tiffreau, V ⁱ   Lacour, A ⁱ   Eymard, B ^b   Stojkovic, T ^b,c,d,e  

^a HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c SORBONNE UNIVERSITÉ   (France)

^d CNRS   (France)

^e INSERM   (France)

^f RAYMOND POINCARÉ HOSPITAL   (France)

^g HOSPICES CIVILS DE LYON   (France)

^h HÔPITAL NEUROLOGIQUE   (France)

ⁱ LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 6;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BETHLEM MYOPATHY; CLINICAL ARTICLE; CLINICAL EVOLUTION; CLINICAL EXAMINATION; CLINICAL FEATURE; COHORT ANALYSIS; COL6A1 GENE; COL6A2 GENE; COL6A3 GENE; COMPUTER ASSISTED TOMOGRAPHY; CONTRACTURE; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DISEASE SEVERITY; EVOLUTION; FOLLOW UP; FORCED VITAL CAPACITY; FRAME EXON SKIPPING MUTATION; GENE; GENE DELETION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; LIMB GIRDLE MUSCULAR DYSTROPHY; MIDDLE AGED; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPIC VARIATION; PREDICTIVE VALUE; PRIORITY JOURNAL; PROTEIN SECRETION; RECESSIVE INHERITANCE; RETROSPECTIVE STUDY; SCOLIOSIS; YOUNG ADULT; AGING; BIOPSY; CHILD; EXON; FEMALE; GENETICS; GENOTYPE; MALE; MUSCULAR DYSTROPHIES; MUTATION; NEUROLOGIC EXAMINATION; PATHOLOGY; PHENOTYPE; PRESCHOOL CHILD;

ADOLESCENT; ADULT; AGE OF ONSET; AGING; BIOPSY; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; COLLAGEN TYPE VI; CONTRACTURE; DISEASE PROGRESSION; EXONS; FEMALE; FOLLOW-UP STUDIES; GENOTYPE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUSCLE WEAKNESS; MUSCULAR DYSTROPHIES; MUTATION; MUTATION, MISSENSE; NEUROLOGIC EXAMINATION; PHENOTYPE; RETROSPECTIVE STUDIES; TOMOGRAPHY, X-RAY COMPUTED; YOUNG ADULT;

EID: 84957108554     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2013-307245     Document Type: Article

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