Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

It is well known that morphological changes at the cellular level occur in muscle of patients with mitochondrial myopathy (MM), but changes in muscle structure with fat infiltration and gross variation of muscle fiber size with giant fibers, normally encountered in the muscular dystrophies, have typically not been associated with mitochondrial disease. We investigated gross and microscopic muscle morphology in thigh muscles by muscle biopsy and MRI in 16 patients with MM, and compared findings with those obtained in muscular dystrophy patients and healthy subjects. Changes of muscle architecture, similar to those found in the group of muscular dystrophy patients occurred consistently in patients with a high mutation load for single, largescale deletions of mtDNA, but were absent in all patients with the 3243A-->G mtDNA point mutation. Dystrophic changes of muscle architecture were also present in one MM patient with a unique, sporadic mutation in the mtDNA tRNA(Met) gene. These findings provide evidence that morphological changes in muscle of MM patients are common and may resemble those of muscular dystrophies, but that development of dystrophic-like changes in muscle relate to genotype.
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PMID:Muscle structural changes in mitochondrial myopathy relate to genotype. 1464 49

The authors retrospectively studied histopathologic findings and diagnoses of muscle specimens taken from 188 pediatric patients presenting with clinical neuromuscular disorders in King Chulalongkorn Memorial Hospital between August 1991 and December 2003. Eighty patients (67.8%) established the definite diagnosis by histopathological findings of muscle specimens. About 18.6, 17.7, 7.6, 5.9, 5.0, 3.4, 2.5 and 1.7 percent of the total number of patients were diagnosed as Duchenne muscular dystrophy, spinal muscular atrophy, congenital myopathies, mitochondrial disease, inflammatory myopathies, Becker muscular dystrophy, congenital muscular dystrophy and vacuolar myopathies respectively. Since the histopathological findings in muscle helped to establish the definite diagnosis in most pediatric patients in the present study, thus muscle biopsy is essential for establishing a definite diagnosis in any patient with a suspected neuromuscular disorder.
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PMID:Muscle disorders in pediatric patients in King Chulalongkorn Memorial Hospital. 1608 62

Thirty five floppy children seen during two year period, were subjected to clinical examination, electroneuromyography and muscle biopsy. The muscle biopsy was sent for routine histology, histochemistry and electron microscopy. Using muscle pathology as the 'gold standard' for diagnosis, the aetiological entities were spinal muscular atrophy (16), congenital muscular dystrophy (6), mitochondrial myopathy (3), congenital fibre type disproportion (2), acid mutase deficiency (1) and benign congenital hypotonia (6). Mental subnormality, seizures, ptosis and ophthalmoplegia suggested mitochondrial disease (n=2). Macroglossia, hepatomegaly and cardiomegaly along with the dive bomber effect on electromyography were useful clues to the diagnosis of Pompe's disease (n=1). Positive decremental test established the diagnosis of congenital myasthenia in one patient. Contrary to most previously published reports, infantile onset of spinal muscular atrophy did not always spell a poor prognosis on follow up. 'Floppy infant syndrome' has varied etiology. Comprehensive evaluation including clinical, electrophysiological and detailed histological examination is necessary for proper diagnosis and prognosis of this heterogenous entity.
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PMID:Neuromuscular disorders in infancy and childhood. 2951 74