Congenital fiber-type disproportion myopathy: A case study [PDF]
Medicina Universitaria, 2015 AbstractCongenital fiber-type disproportion myopathy causes impaired muscle maturation or development. It is characterized by moderate to severe hypotonia and generalized muscle weakness at birth or during the first year of life, especially in the lower extremities. It is inherited as an autosomal recessive, dominant and X-linked.
B.J. de Haro-Hernández +3 more
exaly +5 more sources
Comparison of clinical characteristics between congenital fiber type disproportion myopathy and congenital myopathy with type 1 fiber predominance. [PDF]
Yonsei Med J, 2006 Congenital myopathies are clinical and genetic heterogeneous disorders characterized by skeletal muscle weakness and specific structural changes in muscle fiber. Congenital myopathy with fiber type disproportion (CFTD) is an established disorder of congenital myopathy.
Na SJ +5 more
europepmc +7 more sources
Peripartum Management of Congenital Fiber Type Disproportion Myopathy With Severe Restrictive Lung Disease. [PDF]
Cureus, 2022 Congenital myopathies raise unique challenges for anesthesiologists during labor and delivery. Apart from having a risk for malignant hyperthermia, this patient population can present with severe restrictive lung disease in the third trimester. Scoliosis and weak pelvic muscles could make regional anesthesia difficult.
Velutha Mannil S, Reddy S, Romanelli EB.
europepmc +5 more sources
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy
Neuromuscular Disorders, 2011 This study aimed to identify the genetic defect in a multigenerational family presenting an autosomal dominant myopathy with histological features of congenital fiber type disproportion. Linkage analysis and genetic sequencing identified, in all affected members of the family, the c.5807A>G heterozygous mutation in MYH7, which encodes the slow/β ...
Nicolas Levy +2 more
exaly +6 more sources
A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy [PDF]
Journal of Human Genetics, 2002 Chromosome 1p36 deletion syndrome is characterized by hypotonia, moderate to severe developmental and growth retardation, and characteristic craniofacial dysmorphism. Muscle hypotonia and delayed motor development are almost constant features of the syndrome. We report a 4-year-old Japanese girl with 1p36 deletion syndrome whose muscle pathology showed
Nobuhiko Okamoto +2 more
exaly +4 more sources
Severe insulin-resistant diabetes mellitus in patients with congenital muscle fiber type disproportion myopathy. [PDF]
Journal of Clinical Investigation, 1995 Congenital muscle fiber type disproportion myopathy (CFTDM) is a chronic, nonprogressive muscle disorder characterized by universal muscle hypotrophy and growth retardation. Histomorphometric examination of muscle shows a preponderance of smaller than normal type 1 fibers and overall fiber size heterogeneity. Concomitant endocrine dysfunctions have not
Henrik Vestergaard +7 more
openalex +3 more sources
Clinical and Pathological Features of Flexural Deformities Associated with Myopathies in Foals [PDF]
Veterinary SciencesFlexural deformities (FDs) are a common condition in foals. Therapy is typically initiated without a precise diagnosis, and the etiopathogenesis often remains unknown.
Maria Pia Pasolini +9 more
doaj +2 more sources
A novel pathogenic variant c.44A > G (p. Asp15Gly) in TPM3 causing the phenotype of CMYP4A: A case report [PDF]
Molecular Genetics and Metabolism ReportsTropomyosin 3 (TPM3) encodes the slow α-tropomyosin isoform (Tpm3.12), an actin-binding protein that plays a critical role in the regulation of muscle contraction.
Shanshan Fan +5 more
doaj +2 more sources
Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy [PDF]
Global Medical GeneticsIntroduction ORAI-1 is a plasma membrane calcium release-activated calcium channel that plays a crucial role in the excitation–contraction of skeletal muscles.
Dipti Baskar +13 more
doaj +2 more sources