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A new phenotype of dysferlinopathy with congenital onset.
- Source :
-
Neuromuscular disorders : NMD [Neuromuscul Disord] 2009 Jan; Vol. 19 (1), pp. 21-5. Date of Electronic Publication: 2008 Dec 11. - Publication Year :
- 2009
-
Abstract
- We report two patients with a new phenotype of dysferlinopathy presenting as congenital muscular disease. Both patients showed weakness in proximal lower limbs and neck flexor muscles at birth. The presence of normal CK levels during the first years should be noted. Initial MRI showed no abnormalities but short-time-inversion-recovery (STIR) sequences revealed a striking myoedema in gastrocnemius and hamstring muscles at the age of 5. Muscle biopsy showed mild dystrophic features and the absence of dysferlin. Dysferlin gene (DYSF) analysis revealed a p.Ala927LeufsX21 mutation in a homozygous state in both siblings. This new phenotype widens the clinical spectrum of dysferlin myopathies.
- Subjects :
- Amino Acid Substitution genetics
Biopsy
Child, Preschool
Creatine Kinase analysis
Creatine Kinase metabolism
DNA Mutational Analysis
Dysferlin
Edema genetics
Edema pathology
Edema physiopathology
Female
Genetic Markers genetics
Genetic Testing
Genotype
Humans
Magnetic Resonance Imaging
Male
Muscle Weakness genetics
Muscle Weakness pathology
Muscle Weakness physiopathology
Muscle, Skeletal metabolism
Muscle, Skeletal physiopathology
Muscular Diseases physiopathology
Phenotype
Genetic Predisposition to Disease genetics
Membrane Proteins genetics
Muscle Proteins genetics
Muscle, Skeletal pathology
Muscular Diseases congenital
Muscular Diseases genetics
Mutation genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0960-8966
- Volume :
- 19
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Neuromuscular disorders : NMD
- Publication Type :
- Academic Journal
- Accession number :
- 19084402
- Full Text :
- https://doi.org/10.1016/j.nmd.2008.09.015