Congenital Myasthenic Syndrome
| Disorder | |
|---|---|
| OMIM #: | #616326 (Click to access OMIM database) |
| Disorder: | Congenital Myasthenic Syndrome |
| Also known as: | Myasthenic syndrome, congenital, 11, associated with acetylecholine receptor deficiency CMS11 |
| Clinical | |
| Phenotype: | early-onset muscle weakness which worsens with physical exertion, varying severity of myasthenia, feeding difficulties, possible breathing problems, awkward gait, easily fatigued, ptosis, high-arched palate, joint contractures, hypotonia, motor developmental delay |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | RAPSN |
| Base Change: | C>A, at nucleotide 264 |
| Amino Acid Change: | asn 88 --> lys |
| 2 Old Order Mennonite | |
| Gene: | RAPSN |
| Base Change: | C>T, at nucleotide 328 |
| Amino Acid Change: | leu 110 --> phe |
| Last updated: | 2022-11-03 |
| References |
|---|
| Müller JS, Abicht A, Burke G, Cossins J, Richard P, Baumeister SK, Stucka R, Eymard B, Hantaï D, Beeson D, Lochmüller H. (2004) The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder. J Med Genet Aug;41(8):e104. PubMed ID: 15286164 |
| Müller JS, Mildner G, Müller-Felber W, Schara U, Krampfl K, Petersen B, Petrova S, Stucka R, Mortier W, Bufler J, Kurlemann G, Huebner A, Merlini L, Lochmüller H, Abicht A. (2003) Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. Neurology Jun 10;60(11):1805-10. PubMed ID: 12796535 |
| Ohno K, Engel AG, Shen XM, Selcen D, Brengman J, Harper CM, Tsujino A, Milone M. (2002) Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am J Hum Genet Apr;70(4):875-85. PubMed ID: 11791205 |
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