Skip to main content
NCBI home page
Journal of Neurology, Neurosurgery, and Psychiatry logoLink to Journal of Neurology, Neurosurgery, and Psychiatry
. 1969 Dec;32(6):495–508. doi: 10.1136/jnnp.32.6.495

Congenital ophthalmoplegia, floppy baby syndrome, myopathy, and aminoaciduria. Report of a family.

L J Hurwitz, N A Carson, I V Allen, J S Chopra
PMCID: PMC496581  PMID: 5364721

Full text

PDF
495

Images in this article

497Image
on p.497
498Image
on p.498
498Image
on p.498

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. BERGER H. Aminoaciduria in progressive muscular dystrophy. Rev Can Biol. 1962 Sep-Dec;21:567–576. [PubMed] [Google Scholar]
  2. BLAHD W. H., BLOOM A., DRELL W. Qualitative study of aminoaciduria in muscular dystrophy and myotonia dystrophica. Proc Soc Exp Biol Med. 1955 Dec;90(3):704–706. doi: 10.3181/00379727-90-22142. [DOI] [PubMed] [Google Scholar]
  3. BLOCK W. D., HUBBARD R. W., STEELE B. F. EXCRETION OF HISTIDINE AND HISTIDINE DERIVATIVES BY HUMAN SUBJECTS INGESTING PROTEIN FROM DIFFERENT SOURCES. J Nutr. 1965 Apr;85:419–425. doi: 10.1093/jn/85.4.419. [DOI] [PubMed] [Google Scholar]
  4. Batten F. E. Myopathy. Simple Atrophic Type. Proc R Soc Med. 1915;8(NEUROL):69–69. doi: 10.1177/003591571500800814. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. CARSON N. A., NEILL D. W. Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland. Arch Dis Child. 1962 Oct;37:505–513. doi: 10.1136/adc.37.195.505. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. CARUSO G., BUCHTHAL F. REFRACTORY PERIOD OF MUSCLE AND ELECTROMYOGRAPHIC FINDINGS IN RELATIVES OF PATIENTS WITH MUSCULAR DYSTROPHY. Brain. 1965 Mar;88:29–50. doi: 10.1093/brain/88.1.29. [DOI] [PubMed] [Google Scholar]
  7. CHRISTENSEN P. J., DATE J. W., SCHONHEYDER F., VOLQVARTZ K. Amino acids in blood plasma and urine during pregnancy. Scand J Clin Lab Invest. 1957;9(1):54–61. doi: 10.3109/00365515709088114. [DOI] [PubMed] [Google Scholar]
  8. CURTIS A. C., BLOCK W. D. BIOCHEMICAL INVESTIGATIONS OF PSORIASIS. Bull N Y Acad Med. 1964 Sep;40:694–707. [PMC free article] [PubMed] [Google Scholar]
  9. CUSWORTH D. C., DENT C. E. Renal clearances of amino acids in normal adults and in patients with aminoaciduria. Biochem J. 1960 Mar;74:550–561. doi: 10.1042/bj0740550. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. DOOLAN P. D., HARPER H. A., HUTCHIN M. E., SHREEVE W. W. Renal clearance of eighteen individual amino acids in human subjects. J Clin Invest. 1955 Aug;34(8):1247–1255. doi: 10.1172/JCI103171. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. FINK K., WILLIAMS A. D., FINK R. M. 1-Methylhistidine excretion by vitamin E-deficient rabbits. J Biol Chem. 1959 May;234(5):1182–1185. [PubMed] [Google Scholar]
  12. FLEMING W. H., AVERY G. B., MORGAN R. I., CONE T. E., Jr GASTROINTESTINAL MALABSORPTION ASSOCIATED WITH CYSTINURIA. REPORT OF A CASE IN A NEGRO. Pediatrics. 1963 Sep;32:358–370. [PubMed] [Google Scholar]
  13. FRIMPTER G. W., HORWITH M., FURTH E., FELLOWS R. E., THOMPSON D. D. Inulin and endogenous amino acid renal clearances in cystinuria: evidence for tubular secretion. J Clin Invest. 1962 Feb;41:281–288. doi: 10.1172/JCI104481. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. GRAHAM P. J. CONGENITAL FLACCID BULBAR PALSY. Br Med J. 1964 Jul 4;2(5400):26–28. doi: 10.1136/bmj.2.5400.26. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. GROSS J. B., COMFORT M. W., ULRICH J. A. The current status of hereditary pancreatitis. Minn Med. 1958 Feb;41(2):78–82. [PubMed] [Google Scholar]
  16. Gardner-Medwin D. Studies of the carrier state in the Duchenne type of muscular dystrophy. 2. Quantitative electromyography as a method of carrier detection. J Neurol Neurosurg Psychiatry. 1968 Apr;31(2):124–134. doi: 10.1136/jnnp.31.2.124. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. HARVEY J. C., SHERBOURNE D. H., SIEGEL C. I. SMOOTH MUSCLE INVOLVEMENT IN MYOTONIC DYSTROPHY. Am J Med. 1965 Jul;39:81–90. doi: 10.1016/0002-9343(65)90247-0. [DOI] [PubMed] [Google Scholar]
  18. HUBBARD R. W., STEELE B. F., SPEAR V., BLOCK W. D. Amino acid content of blood and urine in psoriasis. J Invest Dermatol. 1962 Mar;38:183–187. doi: 10.1038/jid.1962.30. [DOI] [PubMed] [Google Scholar]
  19. HURLEY K. E., WILLIAMS R. J. Urinary amino acids, creatinine and phosphate in muscular dystrophy. Arch Biochem Biophys. 1955 Feb;54(2):384–391. doi: 10.1016/0003-9861(55)90051-5. [DOI] [PubMed] [Google Scholar]
  20. Hurwitz L. J., Carson A. J., Allen I. V., Fannin T. F., Lyttle J. A., Neill D. W. Clinical, biochemical and histopathological findings in a family with muscular dystrophy. Brain. 1967 Dec;90(4):799–816. doi: 10.1093/brain/90.4.799. [DOI] [PubMed] [Google Scholar]
  21. Hurwitz L. J., Lyttle J. A., Neill D. W. Muscular dystrophy with a familial aminoaciduria of unusual pattern. Lancet. 1965 Oct 9;2(7415):722–723. doi: 10.1016/s0140-6736(65)90459-9. [DOI] [PubMed] [Google Scholar]
  22. Hurwitz L. J., Maguire C. J., Fannin T. Congenital ophthalmoplegia. A myopathic aetiology in two siblings. J Neurol Neurosurg Psychiatry. 1968 Aug;31(4):372–378. doi: 10.1136/jnnp.31.4.372. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Kekomäki M. Intestinal absorption of L-arginine and L-lysine in familial protein intolerance. Ann Paediatr Fenn. 1968;14(1):18–22. [PubMed] [Google Scholar]
  24. LEES F., LIVERSEDGE L. A. Descending ocular myopathy. Brain. 1962 Dec;85:701–710. doi: 10.1093/brain/85.4.701. [DOI] [PubMed] [Google Scholar]
  25. Milne M. D., Asatoor A. M., Edwards K. D., Loughridge L. W. The intestinal absorption defect in cystinuria. Gut. 1961 Dec;2(4):323–337. doi: 10.1136/gut.2.4.323. [DOI] [PMC free article] [PubMed] [Google Scholar]
  26. PARKER N. DYSTROPHIA MYOTONICA PRESENTING AS CONGENITAL FACIAL DIPLEGIA. Med J Aust. 1963 Dec 7;2:939–944. [PubMed] [Google Scholar]
  27. PITNER S. E., EDWARDS J. E., MCCORMICK W. F. OBSERVATIONS ON THE PATHOLOGY OF THE MOEBIUS SYNDROME. J Neurol Neurosurg Psychiatry. 1965 Aug;28:362–374. doi: 10.1136/jnnp.28.4.362. [DOI] [PMC free article] [PubMed] [Google Scholar]
  28. Perheentupa J., Visakorpi J. K. Protein intolerance with deficient transport of basic aminoacids. Another inborn error of metabolism. Lancet. 1965 Oct 23;2(7417):813–816. doi: 10.1016/s0140-6736(65)92446-3. [DOI] [PubMed] [Google Scholar]
  29. ROSS R. T. Ocular myopathy sensitive to curare. Brain. 1963 Mar;86:67–74. doi: 10.1093/brain/86.1.67. [DOI] [PubMed] [Google Scholar]
  30. ROWLEY P. T., MUELLER P. S., WATKIN D. M., ROSENBERG L. E. Familial growth retardation, renal aminoaciduria and cor pulmonale. I. Description of a new syndrome, with case reports. Am J Med. 1961 Aug;31:187–204. doi: 10.1016/0002-9343(61)90108-5. [DOI] [PubMed] [Google Scholar]
  31. SCRIVER C. R., EFRON M. L., SCHAFER I. A. RENAL TUBULAR TRANSPORT OF PROLINE, HYDROXYPROLINE, AND GLYCINE IN HEALTH AND IN FAMILIAL HYPERPROLINEMIA. J Clin Invest. 1964 Mar;43:374–385. doi: 10.1172/JCI104922. [DOI] [PMC free article] [PubMed] [Google Scholar]
  32. SOUPART P. Urinary excretion of free amino acids in normal adult men and women. Clin Chim Acta. 1959 Mar;4(2):265–271. doi: 10.1016/0009-8981(59)90140-8. [DOI] [PubMed] [Google Scholar]
  33. STEIN W. H. Excretion of amino acids in cystinuria. Proc Soc Exp Biol Med. 1951 Dec;78(3):705–708. doi: 10.3181/00379727-78-19189. [DOI] [PubMed] [Google Scholar]
  34. Scriver C. R., Davies E. Endogenous renal clearance rates of free amino acids in pre-pubertal children. (Employing an accelerated procedure for elution chromatography of basic amino acids on ion exchange resin). Pediatrics. 1965 Oct;36(4):592–598. [PubMed] [Google Scholar]
  35. Spiro A. J., Shy G. M., Gonatas N. K. Myotubular myopathy. Persistence of fetal muscle in an adolescent boy. Arch Neurol. 1966 Jan;14(1):1–14. doi: 10.1001/archneur.1966.00470070005001. [DOI] [PubMed] [Google Scholar]
  36. TURNER J. W., LEES F. Congenital myopathy--A fifty-year follow-up. Brain. 1962 Dec;85:733–740. doi: 10.1093/brain/85.4.733. [DOI] [PubMed] [Google Scholar]
  37. VANIER T. M. Dystrophia myotonica in childhood. Br Med J. 1960 Oct 29;2(5208):1284–1288. doi: 10.1136/bmj.2.5208.1284. [DOI] [PMC free article] [PubMed] [Google Scholar]
  38. VERZELLA M., DALFIUME F., LUPPI L. A. PUO' L'OFTALMOPLEGIA CONGENITA FAMILIARE RIENTRARE NEL QUADRO DI UNA MIOPATIA GENERALIZZATA? Ann Ottalmol Clin Ocul. 1963 Dec;89:SUPPL–SUPPL:1117. [PubMed] [Google Scholar]
  39. WALTON J. N. Amyotonia congenita: a follow-up study. Lancet. 1956 Jun 30;270(6931):1023–1027. doi: 10.1016/s0140-6736(56)90797-8. [DOI] [PubMed] [Google Scholar]
  40. Watters G. V., Williams T. W. Early onset myotonic dystrophy. Clinical and laboratory findings in five families and a review of the literature. Arch Neurol. 1967 Aug;17(2):137–152. doi: 10.1001/archneur.1967.00470260027003. [DOI] [PubMed] [Google Scholar]
  41. Whelan D. T., Scriver C. R. Hyperdibasicaminoaciduria: an inherited disorder of amino acid transport. Pediatr Res. 1968 Nov;2(6):525–534. doi: 10.1203/00006450-196811000-00011. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Neurology, Neurosurgery, and Psychiatry are provided here courtesy of BMJ Publishing Group

RESOURCES