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Oculopharyngeal and distal myopathy: a case study from Papua New Guinea.
Am J Med Genet. 1984 Apr; 17(4):763-71.AJ

Abstract

Distal limb myopathy with onset at 30 years, followed by the development of progressive ptosis, external ophthalmoplegia, and pharyngeal myopathy was observed in a 37-year-old Melanesian man from the Gulf Province of Papua New Guinea. Ptosis and external ophthalmoplegia without apparent distal muscle involvement or dysphagia with onset at 35 and 25 years of age, respectively, were noted in the patient's 44- and 27-year-old sisters. Autosomal recessive inheritance appears to be likely in this family. This myopathic syndrome has not previously been reported in Melanesians.

Authors

No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

6720743

Citation

Scrimgeour, E M., and F L. Mastaglia. "Oculopharyngeal and Distal Myopathy: a Case Study From Papua New Guinea." American Journal of Medical Genetics, vol. 17, no. 4, 1984, pp. 763-71.
Scrimgeour EM, Mastaglia FL. Oculopharyngeal and distal myopathy: a case study from Papua New Guinea. Am J Med Genet. 1984;17(4):763-71.
Scrimgeour, E. M., & Mastaglia, F. L. (1984). Oculopharyngeal and distal myopathy: a case study from Papua New Guinea. American Journal of Medical Genetics, 17(4), 763-71.
Scrimgeour EM, Mastaglia FL. Oculopharyngeal and Distal Myopathy: a Case Study From Papua New Guinea. Am J Med Genet. 1984;17(4):763-71. PubMed PMID: 6720743.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Oculopharyngeal and distal myopathy: a case study from Papua New Guinea. AU - Scrimgeour,E M, AU - Mastaglia,F L, PY - 1984/4/1/pubmed PY - 1984/4/1/medline PY - 1984/4/1/entrez SP - 763 EP - 71 JF - American journal of medical genetics JO - Am J Med Genet VL - 17 IS - 4 N2 - Distal limb myopathy with onset at 30 years, followed by the development of progressive ptosis, external ophthalmoplegia, and pharyngeal myopathy was observed in a 37-year-old Melanesian man from the Gulf Province of Papua New Guinea. Ptosis and external ophthalmoplegia without apparent distal muscle involvement or dysphagia with onset at 35 and 25 years of age, respectively, were noted in the patient's 44- and 27-year-old sisters. Autosomal recessive inheritance appears to be likely in this family. This myopathic syndrome has not previously been reported in Melanesians. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/6720743/Oculopharyngeal_and_distal_myopathy:_a_case_study_from_Papua_New_Guinea_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1984&volume=17&issue=4&spage=763 DB - PRIME DP - Unbound Medicine ER -