Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: Is there more in muscular dystrophy than meets the eye?

Neuromuscular Disorders

Volumn 12, Issue 6, 2002, Pages 554-557

  Tonini, M M O ^a   Passos Bueno, M R ^a   Cerqueira, A ^a   Pavanello, R ^a   Vainzof, M ^a   Dubowitz, V ^b   Zatz, M ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

Author keywords

Brazilian families; Facioscapulohumeral; Muscular dystrophy

Indexed keywords

CREATINE KINASE;

ADULT; AGED; ARTICLE; BRAZIL; CLINICAL ARTICLE; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MOLECULAR BIOLOGY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; PHENOTYPE; PRIORITY JOURNAL; WHEELCHAIR;

ADOLESCENT; ADULT; BIOPSY; BRAZIL; CHROMOSOME ABERRATIONS; ELECTROMYOGRAPHY; ELECTROPHORESIS, GEL, PULSED-FIELD; FEMALE; HUMANS; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; PEDIGREE; PHENOTYPE;

EID: 0036310629     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(02)00014-7     Document Type: Article

References (16)

1. Mapping of facioscapulohumeral muscular dystrophy gene 4q35-qter by multipoint genetic linkage analysis and in situ hybridization
2. The evolutionary distribution and structural organization of the homeobox-containing repeat D4Z4 indicates a functional role for the ancestral copy in the FHSD region
3. Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)
4. Limb-girdle muscular dystrophy: One gene with different phenotypes, one phenotype with different genes
5. Neuromuscular disorders: Gene location
6. Limb-girdle muscular dystrophy type 2G (LGMD2G) is caused by mutations in the gene encoding the sarcomeric protein telethonin
7. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
8. FSH dystrophy 4q35 deletion in patients presenting with facial-sparing scapular myopathy
9. Correlation between fragment size at D4F104S1 and age of onset or at wheelchair use, with a possible generational effect, account for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)
10. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy
11. Progress in the molecular diagnosis of Facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotypes
12. High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families
13. The facioscapulohumeral muscular dystrophy (FSHD1) affects males more severely and more frequently than females
14. Retrotransposons as epigenetic mediators of phenotypic variation in mammals
15. Association of FSHD and CMT1A in two Italian families
16. Recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element