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Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity
- Source :
- Neuromuscular Disorders. 10:10-15
- Publication Year :
- 2000
- Publisher :
- Elsevier BV, 2000.
-
Abstract
- We describe a six generation Saudi kindred, with a recessive hereditary motor and sensory neuropathy (HMSN). Four individuals were affected including two children (a boy and a girl) and a 23-year-old man. The fourth (a female) died at the age of 14 years. Onset of the disease was early (2 years) and the clinical and neurophysiological features were, generally, quite similar to those of an Italian family linked to chromosome 11q23. The peculiar pathologic pattern was irregular and redundant loops associated with folding of the myelin sheaths. The genetic study confirmed linkage to chromosome 11q23 and refined the location of the gene between D11S1311 and D11S917, a 3.3 cM region. These findings support the existence of a homogeneous and distinct entity within the form of HMSN associated with focally folded myelin sheaths.
- Subjects :
- Adult
Male
Genotype
Genetic Linkage
Genes, Recessive
Biology
Nervous System
Sural Nerve
medicine
Humans
Myelin Sheath
Genetics (clinical)
Genetics
Chromosomes, Human, Pair 11
Chromosome
medicine.disease
eye diseases
Pedigree
Microscopy, Electron
Neurology
Homogeneous
Child, Preschool
Pediatrics, Perinatology and Child Health
Female
Focally folded myelin
Neurology (clinical)
Hereditary Sensory and Motor Neuropathy
Hereditary motor and sensory neuropathy
Subjects
Details
- ISSN :
- 09608966
- Volume :
- 10
- Database :
- OpenAIRE
- Journal :
- Neuromuscular Disorders
- Accession number :
- edsair.doi.dedup.....297c88da0eb73095620f9436a64cce68
- Full Text :
- https://doi.org/10.1016/s0960-8966(99)00057-7