Familial scapuloperoneal myopathy and mitochondrial DNA defect

European Neurology

Volumn 42, Issue 4, 1999, Pages 211-216

  Pál, Endre ^a   Bedekovics, Tibor ^b   Gáti, István ^b  

^a UNIVERSITY OF PÉCS   (Hungary)

^b NONE

Author keywords

Autosomal dominant inheritance; Mitochondrial DNA deletion; Scapuloperoneal myopathy

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CENTRAL NERVOUS SYSTEM DISEASE; CLINICAL ARTICLE; DEMENTIA; DISEASE COURSE; ELECTROPHYSIOLOGY; EPILEPSY; FACE MUSCLE; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; HUMAN TISSUE; LEG DISEASE; MALE; MUSCLE BIOPSY; MUSCLE MITOCHONDRION; ONSET AGE; OPTIC NERVE ATROPHY; PELVIS; PERIPHERAL NEUROPATHY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SHOULDER GIRDLE;

EID: 0344578009     PISSN: 00143022     EISSN: None     Source Type: Journal    
DOI: 10.1159/000008109     Document Type: Article

References (27)

1. Carrol JE: Facioscapulohumeral and scapuloperoneal syndromes; in Vinken PJ, Bruyn GW (eds): Handbook of Clinical Neurology. 1979, vol 40, pp 415-431.
2. Davidenkow S: Scapuloperoneal amyotrophy. Arch Neurol Psychiatry 1939;41:694-701.
3. Ricker K, Mertens H-G: The differential diagnosis of the myogenic (facio)-scapulo-peroneal syndrome. Eur Neurol 1968;1:275-307.
4. Kaeser HE: Scapuloperoneal muscular atrophy. Brain 1965;88:407-418.
5. Thomas PK, Schott GD, Morgan-Hughes JA: Adult onset scapuloperoneal myopathy. J Neurol Neurosurg Psychiatry 1975;38:1008-1015.
6. Morgan-Huges JA: A mitochondrial myopathy characterized by a deficiency in reducible cytochrome b. Brain 1977;100:617-640.
7. Dubowitz V, Brooke MH: Muscle Biopsy: A Modern Approach. London, Saunders, 1973.
8. Bethlem J: Scapulo-peroneal myopathies; in Bethlem J (ed): Myopathies. Amsterdam, Elsevier, 1980, pp 39-50.
9. Munsat TL: Facioscapulohumeral dystrophy and scapuloperoneal syndrome; in Engel AG, Banker BQ (eds): Myology 2. McGraw-Hill, 1986, pp 1251-1266.
10. Yee WC, Hahn AF, Gilbert JJ: Adult onset scapuloperoneal myopathy: Diagnostic value of nerve morphometry and multiple muscle biopsies. J Neurol Neurosurg Psychiatry 1988;51: 808-813.
11. Tawil R, Myers GJ, Weiffenbach B, Griggs RC: Scapuloperoneal syndromes: Absence of linkage to the 4q35 FSHD locus. Arch Neurol 1995;52:1069-1072.
12. Wilhelmsen KC, Blake DM, Lynch T, Mabutas J, De Vera M, Neystat M, Bernstein M, Hirano M, Gilliam TC, Murphy PL, Sola MD, Bonilla E, Schotland DL, Hays AP, Rowland LP: Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy. Ann Neurol 1996;39:507-520.
13. Ansher M, Smith LD, Ringel SP: Autosomal dominant scapuloperoneal syndrome with sensorineural hearing loss. Otolaryngol Head Neck Surg 1989;100:242-244.
14. Chakrabarti A, Pearce JM: Scapuloperoneal syndrome with cardiomyopathy: Report of a family with autosomal dominant inheritance and unusual features. Neurol Neurosurg Psychiatry 1981;44:1146-1152.
15. Dickey JB, Daily MJ: Retinal teleangiectasis in scapuloperoneal muscular dystrophy. Am J Ophthalmol 1991;112:348-349.
16. Sand T, Hestnes A: Sensory signs and symptoms in scapuloperoneal atrophy. A report of a family. Eur Neurol 1985;24:405-413.
17. Feigenbaum JA, Munsat TL: A neuromuscular syndrome of scapuloperoneal distribution. Bull Los Angeles Neurol Soc 1970;35:47-57.
18. Odajima N, Matsunaga T, Furukawa T, Tsukagoshi H: Distribution of skeletal muscle involvement in myotonic dystrophy - A computed tomographic study. Rinsho Shinkeigaku 1990;30:707-712.
19. Goebel HH, Meinck HM, Reinecke M, Schimringk K, Mielke U: Centronuclear myopathy with special consideration of the adult form. Eur Neurol 1984;23:425-434.
20. Barohn RJ, McVey AL, DiMauro S: Adult acid maltase deficiency. Muscle Nerve 1993;16: 672-676.
21. Serratrice G, Pellissier JF, Pouget J, Figarella-Branger D: Formes cliniques des myositides à inclusions: 12 cas. Rev Neurol 1989;145:781-788.
22. Maruoka A, Ideguchi H, Nawata H, Goto I, Ibayashi H: Familial scapulo-peroneal-type myopathy associated with a marked elevation of serum creatine kinase and hepatomegaly. Rinsho Shinkeigaku 1989;29:325-331.
23. Moraes CT: Mitochondrial diseases: Toward a rational classification: in Appel SH (ed): Current Neurology. St Louis, Mosby Year Book, 1991, vol 11, pp 83-119.
24. Malcic I, Barisic N, Pazanin L, Richter D, Jadro-Santel D, Senecic I, Jelic I, Hlavka V: Mitochondrial cardiomyopathy and scapuloperoneal spinal muscular atrophy in a child. Acta Med Croatica 1993;47:47-50.
25. Hudgson P, Bradley WG, Jenkinson M: Familial mitochondrial myopathy. I. Clinical, electrophysiological and pathological findings. J Neurol Sci 1972;16:343-370.
26. Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, DiDonato S: An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 1989;339:309-311.
27. Kawai H, Akaike M, Yokoi K, Nishida Y, Kunishige M, Mine H, Saito S: Mitochondrial encephalomyopathy with autosomal dominant inheritance: A clinical and genetic entity of mitochondrial disease. Muscle Nerve 1995;18: 753-760.