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“Rippling Muscle Disease”, Victor McKusick, Mendelian Inheritance in Man, 1966.

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Here I present: “Rippling Muscle Disease”, Victor McKusick, Mendelian Inheritance in Man’, 1966.

INTRODUCTION.

Rippling muscle disease (RMD) is a generally benign disorder characterized by muscle stiffness, muscle hypertrophy, and self-propagating muscle rippling induced by stretch or percussion. It is characterized by wave-like, electrically-silent muscle contractions, muscle mounding, painful muscle stiffness, and muscle hypertrophy with serum creatine kinase elevation.


Rippling muscle disease
(RMD) is an inherited condition that primarily affects the muscles. It belongs to a group of conditions known as caveolinopathies. Symptoms of the condition generally begin during late childhood or adolescence, although the age of onset can vary widely. It is characterized by signs of increased muscle irritability, including percussion-induced rapid contractions (repetitive tensing of the muscle), percussion-induced muscle mounding (“bunching up” of the muscle), and/or visible rippling of the muscles. Fatigue, cramps, and/or muscle stiffness are common, especially after strenuous activity or exposure to cold temperatures. Some affected people may also have hypertrophy (overgrowth) of some muscles and an unusual gait.

There is evidence Rippling muscle disease (RMD) is caused by a mutation in the Rippling muscle disease type-1 gene (RMD1) on cytogenetic location 1q41 and genomic coordinates  1:214,400,001-223,900,000 . The screenshot of the RMD1 gene 9,500,000 bp (base pairs) of DNA sequence length is shown BELOW.   Nine (9) other genes besides RMD1  in the cytogenetic location are listed BENEATH.  

Coordinate  Symbol  Genomic Name.
1:214,348,700  PTPN14 Protein tyrosine phosphatase, nonreceptor-type, 14
1:214,400,001  AUTS11 Autism, susceptibility to, 11
1:214,400,001  DEL1q41q42 Chromosome 1q41-q42 deletion syndrome
1:214,400,001  OTSC10 Otosclerosis 10
1:214,400,001  RMD1 Rippling muscle disease 1
1:214,603,195  CENPF Centromere autoantigen F
1:215,005,542  KCNK2 Potassium channel, subfamily K, member 2
1:215,567,304  KCTD3 Potassium channel tetramerization domain protein 3
1:215,622,891  USH2A Usherin
1:216,503,246  ESRRG Estrogen-related receptor, gamma

 

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