Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q

Article Abstract:

Two Swedish families whose members have a muscle disorder and an identical haplotype have been screened for linkage using the human genome screening set. Most chromosome regions were completely excluded by linkage analysis. Linkage to the chromosomal region 2q24-q31 was found. The gene for the disease is likely to be in the 17-cM region between markers D2S2384 and D2S364. The families have autosomal dominant myopathy and early respiratory failure and proximal weakness. They also have characteristic cytoplasmic bodies in biopsies of affected muscles.

Italy, Sweden, Usage, Chromosome mapping, Muscle diseases, Muscular diseases, Respiratory tract diseases

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Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals

Article Abstract:

Lethal congenital contracture syndrome (LCCS) has been assigned to a restricted region of chromosome 9q34 by use of genome scanning using five affected individuals from two families. LCCS is an autosomal recessive disease. It is characterized by the fetal akinesia phenotype and leads to death before the 32nd gestational week. All cases reported, of which there have been 43, have been in Finland. The etiology and pathological mechanism of the motoneuron disease are not yet known.

Finland, Causes of, Motor neurons, Cellular control mechanisms, Cell regulation, Lethal mutation, Fetal death, Ontogeny

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