Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

P, an Indonesian boy, 5 years old, 15 kg of body weight and 110 cm of body length, was admitted to the PTP IX Hospital on March 30, 1987 with cerebral palsy. The patient had fever since 10 days before admission which lasted 7 days; he showed restlessness by involuntary movements when catching, thus when holding something in his hand, it fell off. He had difficulty in walking and talking. On physical examination, were hyperemic the tonsils and pharynx; there was muscular hypotonia, flexed arms and metacarpophalangeal extension. Laboratory findings showed leukocytosis, increased ASTO titer, positive CRP and normal cerebral spinal fluid. Head CT scan showed no abnormality. Electrocardiogram and EEG were in normal limits. Throat swab culture produced Group A Streptococcus beta hemolyticus. The diagnosis of sydenham's chorea was established. Procaine penicillin, phenobarbital and vitamins were administered to the patient. After 5 weeks in the ward the patient was doing well, and now he is working and speaking normally; he is on ambulatory treatment with 1.2 million units/month of long-acting benzathine penicillin, at the Department of Child Health, Tembakau Deli Hospital, Medan.
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PMID:Sydenham's chorea. 207 7

X-linked recessive myotubular myopathy (XLMTM) is characterized by severe hypotonia and generalized muscle weakness, with impaired maturation of muscle fibres. The gene responsible, MTM1, was identified recently by positional cloning, and encodes a protein (myotubularin) with a tyrosine phosphatase domain (PTP). Myotubularin is highly conserved through evolution and defines a new family of putative tyrosine phosphatases in man. We report the identification of MTM1 mutations in 55 of 85 independent patients screened by single-strand conformation polymorphism for all the coding sequence. Large deletions were observed in only three patients. Five point mutations were found in multiple unrelated patients, accounting for 27% of the observed mutations. The possibility of detecting mutations and determining carrier status in a disease with a high proportion of sporadic cases is of importance for genetic counselling. More than half of XLMTM mutations are expected to inactivate the putative enzymatic activity of myotubularin, either by truncation or by missense mutations affecting the predicted PTP domain. Additional mutations are missenses clustered in two regions of the protein. Most of these affect amino acids conserved in the homologous yeast and Caenorhabditis elegans proteins, thus indicating the presence of other functional domains.
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PMID:Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. 930 55