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Myotonia congenita is a congenital neuromuscular channelopathy that affects skeletal muscles (muscles used for movement). It is a genetic disorder.The hallmark of the disease is the failure of initiated contraction to terminate, often referred to as delayed relaxation of the muscles and rigidity. [1]
Becker muscular dystrophy (BMD) is an X-linked recessive inherited disorder characterized by slowly progressing muscle weakness of the legs and pelvis. It is a type of dystrophinopathy . [ 5 ] [ 3 ] The cause is mutations and deletions in any of the 79 exons encoding the large dystrophin protein , essential for maintaining the muscle fiber's ...
12723 Ensembl ENSG00000188037 ENSMUSG00000029862 UniProt P35523 Q64347 RefSeq (mRNA) NM_000083 NM_013491 NM_001363712 RefSeq (protein) NP_000074 NP_038519 NP_001350641 Location (UCSC) Chr 7: 143.32 – 143.35 Mb Chr 6: 42.26 – 42.29 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb ...
It is characterised by myotonia congenita, a hereditary condition that may cause it to stiffen or fall over when excited or startled. [ 1 ] : 396 [ 2 ] [ 3 ] It may also be known as the Tennessee fainting goat, falling goat, stiff-legged goat or nervous goat, or as the Tennessee wooden-leg goat.
Isolated case reports of myotonia had been published previously, including reports by Frederick Eustace Batten and Hans Curschmann, and type 1 myotonic dystrophy is therefore sometimes known as Curschmann-Batten-Steinert syndrome. [35] The underlying cause of type 1 myotonic dystrophy was determined in 1992. [2]
Myotonia is the defining symptom of many channelopathies (diseases of ion channel transport) such as myotonia congenita, paramyotonia congenita and myotonic dystrophy. [3] [4] Brody disease (a disease of ion pump transport) has symptoms similar to myotonia congenita, however, the delayed muscle relaxation is pseudo-myotonia as the EMG is normal ...
Paramyotonia congenita (PC) is a rare congenital autosomal dominant neuromuscular disorder characterized by "paradoxical" myotonia. [2] This type of myotonia has been termed paradoxical because it becomes worse with exercise whereas classical myotonia, as seen in myotonia congenita , is alleviated by exercise.
Bethlem myopathy is predominantly an autosomal dominant myopathy, classified as a congenital form of limb-girdle muscular dystrophy. [2] There are two types of Bethlem myopathy, based on which type of collagen is affected.