KLHL40 mutation associated with severe nemaline myopathy, fetal akinesia, and cleft palate
نویسندگان
چکیده
منابع مشابه
KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy.
Nemaline myopathy (NM) is a congenital myopathy that can result in lethal muscle dysfunction and is thought to be a disease of the sarcomere thin filament. Recently, several proteins of unknown function have been implicated in NM, but the mechanistic basis of their contribution to disease remains unresolved. Here, we demonstrated that loss of a muscle-specific protein, kelch-like family member ...
متن کاملK7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.
Mutations in the TPM2 gene, which encodes β-tropomyosin, are an established cause of several congenital skeletal myopathies and distal arthrogryposis. We have identified a TPM2 mutation, p.K7del, in five unrelated families with nemaline myopathy and a consistent distinctive clinical phenotype. Patients develop large joint contractures during childhood, followed by slowly progressive skeletal mu...
متن کاملA Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy
BACKGROUND Nemaline myopathies (NM) are rare and severe muscle diseases characterized by the presence of nemaline bodies (rods) in muscle fibers. Although ten genes have been implicated in the etiology of NM, an important number of patients remain without a molecular diagnosis. OBJECTIVE Here we describe the clinical and histopathological features of a sporadic case presenting with severe NM ...
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Patients suffering from a cleft palate and/or cleft lip present evident anatomical defects in both formations. However, these developmental disorders are often accompanied by important disturbances in other anatomical structures of the mouth and adjacent tissues that may affect normal dental occlusion and, consequently, the basic functions of mastication and phonation. The objectives of the pre...
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ژورنال
عنوان ژورنال: Journal of Pediatric Neurosciences
سال: 2019
ISSN: 1817-1745
DOI: 10.4103/jpn.jpn_60_19