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Congenital nemaline myopathy
- ... magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy. Muscle Nerve. 2014 Dec;50(6):1011-6. doi: 10.1002/mus.24353. Epub 2014 Oct 30. Citation on PubMed ... of ACTA1-related congenital fiber type disproportion. Ann Neurol. 2007 Jun;61( ...
- ... 6; NEM6 CONGENITAL MYOPATHY 4B, AUTOSOMAL RECESSIVE; CMYO4B CONGENITAL MYOPATHY 23; CMYO23 NEMALINE MYOPATHY 8; NEM8 NEMALINE MYOPATHY 9; NEM9 NEMALINE ...
- ... Tajsharghi H, Ohlsson M, Lindberg C, Oldfors A. Congenital myopathy with nemaline rods and cap structures caused by a mutation ...
- ... their family. Actin filament aggregate myopathy Actin myopathy Congenital myopathy with excess of thin filaments Nemaline myopathy 3 Genetic Testing Registry: Actin accumulation myopathy ...
- ... contraction leads to muscle weakness in people with congenital fiber-type disproportion. More About This Health Condition Mutations in the TPM3 gene are also associated with a condition called nemaline myopathy. People with nemaline myopathy typically have muscle weakness ...
- ... disorder in their family. Intranuclear nemaline rod myopathy Nemaline myopathy with exclusively intranuclear rods Genetic Testing Registry: Actin accumulation myopathy National Organization for Rare Disorders (NORD) CONGENITAL MYOPATHY 2A, TYPICAL, AUTOSOMAL DOMINANT; CMYO2A PubMed Feng ...
- Find a Neuromuscular Disease (Muscular Dystrophy Association)Neuromuscular Disorders/Start Here ... Neuromuscular Disorders ... Muscular Dystrophy Association ... MDA is the #1 health nonprofit advancing research, care and advocacy ...
- Cap myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with cap myopathy have muscle ...
- Muscle Disorders (National Library of Medicine)Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle ...
- ... National Urea Cycle Disorders Foundation NBIA Disorders Association Nemaline Myopathy Support Group Nerve Tumors UK Neurofibromatosis Midwest NF ...