Nemaline Myopathy 11, Autosomal Recessive (NEM11)

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OMIM®: ⁵⁷ NEM11 is an autosomal recessive congenital myopathy characterized by onset of slowly progressive muscle weakness in the first decade. Affected individuals present with gait difficulties due to proximal muscle weakness and atrophy mainly affecting the lower limbs and neck. Muscle biopsy shows nemaline bodies. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure (summary by Miyatake et al., 2017). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (161800). (617336) (Updated 08-Dec-2022)

MalaCards based summary: Nemaline Myopathy 11, Autosomal Recessive, also known as nemaline myopathy 11, is related to myopathy and myopathy, myofibrillar, 4. An important gene associated with Nemaline Myopathy 11, Autosomal Recessive is MYPN (Myopalladin), and among its related pathways/superpathways are O-linked glycosylation of mucins and protein N-glycosylation initial phase (eukaryotic). Affiliated tissues include skeletal muscle, heart and heart-ventricle, and related phenotypes are high palate and pectus excavatum

UniProtKB/Swiss-Prot: ⁷³ An autosomal recessive form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM11 is characterized by slowly progressive muscle weakness and atrophy, mainly affecting the lower limbs and neck. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure.

Disease Ontology: ¹¹ A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has material basis in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21.

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Nemaline Myopathy 11, Autosomal Recessive