Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1762617 (weakness)
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Reducing body myopathy is a very rare progressive muscular disease. Apart from a non-specific circumscribed muscle fiber degeneration it displays muscle fiber inclusions which have reducing properties as a typical morphological feature. The nosological classification of the disease is not settled. A case in a 15 years old girl is reported. She suffered from a progressive muscular weakness and atrophy and in a muscle biopsy regressive changes were obvious. Furthermore, multiple eosinophilic muscle fiber inclusions were also observed, which exhibited reducing properties. They consist of electron dense granules with a diameter of 12--16 nm. Since a sister of the patient has suffered for many years from a clinically and morphologically similar muscle disease, reducing body myopathy apparently belongs to the group of congenital myopathies with structural abnormalities. Muscle fiber inclusions with reducing properties also occur in another myopathy, in which they structural and histochemical differ widely from those found in reducing body myopathy. The reducing body myopathy is better named after its typical morphological property, the granular inclusions. It is proposed to name it "granular body myopathy".
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PMID:[Reducing body myopathy--ultrastructure and classification (author's transl)]. 626 77

Reducing body myopathy (RBM) is a rare pathologically defined myopathy characterized by the presence of inclusion bodies which are abnormally stained by menadione-nitroblue-tetrazolium. The clinical symptoms vary widely as to the age of onset, disease progression and severity. Among the many reported patients, there have been only three families with this disorder, showing a manifold of clinicopathological features in each family. We report a fourth family with RBM affecting a boy and his mother. The proband (boy) began to have difficulty putting on his trousers at age 10years and difficulty arising from a chair at 11years. His spine was rigid. His mother, on the other hand, noticed foot-drop at the age 29, but the clinical course was rapidly progressive, and she was wheelchair-bound at 34years. Both patients had generalized muscle weakness and atrophy and with mild CK elevation. Muscle pathology was characterized by the presence of atrophic fibers with reducing bodies in some areas. As these patients demonstrate, clinical symptoms in RBM are very variable, even within the same family. There are no specific clinical characteristics distinctive to RBM, thus further studies are necessary to characterize this disorder both clinically and pathologically.
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PMID:Familial reducing body myopathy. 1691 3

Reducing body myopathy (RBM) is a rare disorder causing progressive muscular weakness characterized by aggresome-like inclusions in the myofibrils. Identification of genes responsible for RBM by traditional genetic approaches has been impossible due to the frequently sporadic occurrence in affected patients and small family sizes. As an alternative approach to gene identification, we used laser microdissection of intracytoplasmic inclusions identified in patient muscle biopsies, followed by nanoflow liquid chromatography-tandem mass spectrometry and proteomic analysis. The most prominent component of the inclusions was the Xq26.3-encoded four and a half LIM domain 1 (FHL1) protein, expressed predominantly in skeletal but also in cardiac muscle. Mutational analysis identified 4 FHL1 mutations in 2 sporadic unrelated females and in 2 families with severely affected boys and less-affected mothers. Transfection of kidney COS-7 and skeletal muscle C2C12 cells with mutant FHL1 induced the formation of aggresome-like inclusions that incorporated both mutant and wild-type FHL1 and trapped other proteins in a dominant-negative manner. Thus, a novel laser microdissection/proteomics approach has helped identify both inherited and de novo mutations in FHL1, thereby defining a new X-linked protein aggregation disorder of muscle.
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PMID:Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. 1827 75

Reducing body myopathy is a rare X-linked myopathy characterized by the presence of reducing bodies. The causative gene has been identified as FHL1. We presented with the clinical, muscle magnetic resonance imaging and genetic features of 6 unrelated Chinese patients with reducing body myopathy. We divided the patients into 2 groups according to their age at onset. In addition to limb muscle weakness, pronounced axial muscle involvement was a striking feature common to both groups. Muscle magnetic resonance imaging revealed fatty infiltration predominantly in the postero-medial muscles of the thigh and the soleus muscle of the calf, sparing the gluteus and sartorius muscles. Muscle pathology demonstrated the muscle fibres with reducing bodies distributed in small groups. Genetic analysis revealed FHL1 hemizygote variants in the 6 patients, including 4 novel and 2 reported variants. These variants were located in the LIM2 domain of FHL1 in 4 patients, but 2 located in the LIM4 domain. To the best of our knowledge, this is the first report of reducing body myopathy in the Chinese population. Our findings expand the genetic spectrum of reducing body myopathy.
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PMID:FHL1-related clinical, muscle MRI and genetic features in six Chinese patients with reducing body myopathy. 3127 21