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Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9
Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, can be caused by a mutation on either chromosome 19q13 (DM1) or 3q21 (DM2/PROMM). DM1 is caused by a CTG expansion in… Expand
Myotonic dystrophy type 2
Background: Myotonic dystrophy types 1 (DM1) and 2 (DM2/proximal myotonic myopathy PROMM) are dominantly inherited disorders with unusual multisystemic clinical features. The authors have… Expand
The skeletal muscle chloride channel in dominant and recessive human myotonia.
Autosomal recessive generalized myotonia (Becker's disease) (GM) and autosomal dominant myotonia congenita (Thomsen's disease) (MC) are characterized by skeletal muscle stiffness that is a result of… Expand
Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy.
BACKGROUND Previous investigations in three families have shown that proximal myotonic myopathy (PROMM) is not linked to the gene loci for myotonic dystrophy (DM) or to the loci of the genes of the… Expand
Myotonia fluctuans. A third type of muscle sodium channel disease.
OBJECTIVES To define a new type of dominant myotonic muscle disorder and to identify the gene lesion. DESIGN Case series, clinical examination and electromyography, measurements of grip force and… Expand
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease
Hereditary rippling muscle disease (RMD) is an autosomal dominant human disorder characterized by mechanically triggered contractions of skeletal muscle. Genome-wide linkage analysis has identified… Expand
Proximal myotonic myopathy
We describe three families with a dominantly inherited disorder. Affected individuals have myotonia, proximal muscle weakness, and cataracts. There was no abnormal CTG repeat expansion of the… Expand
Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria.
- R. Lindberg, R. Martini, +7 authors U. Meyer
- Biology, Medicine
- The Journal of clinical investigation
- 15 April 1999
Acute porphyrias are inherited disorders caused by partial deficiency of specific heme biosynthesis enzymes. Clinically, porphyrias are manifested by a neuropsychiatric syndrome that includes… Expand
Hypokalemic periodic paralysis: In vitro investigation of muscle fiber membrane parameters
To study the mechanism of attacks in familial hypokalemic paralysis, we recorded resting membrane potentials, action potentials, current–voltage relationships, and isometric forces in intercostal… Expand