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2. [Unusual phenotype of myopathy associated with a new PNPLA2 mutation]. Jousserand G; Streichenberger N; Petiot P Med Sci (Paris); 2016 Nov; 32 Hors série n°2():10-11. PubMed ID: 27869069 [No Abstract] [Full Text] [Related]
3. Hypotonia in infancy. Dubowitz V Acta Univ Carol Med Monogr; 1976; (75):13-8. PubMed ID: 1077757 [No Abstract] [Full Text] [Related]
5. Variation in protein structure and inborn errors in metabolism. Poole AE Dent Clin North Am; 1975 Jan; 19(1):47-62. PubMed ID: 803265 [No Abstract] [Full Text] [Related]
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7. Inherited cardiomyopathies. Kelly DP; Strauss AW N Engl J Med; 1994 Mar; 330(13):913-9. PubMed ID: 8114864 [No Abstract] [Full Text] [Related]
8. A myopathy with unusual features caused by PNPLA2 gene mutations. Pennisi EM; Missaglia S; Dimauro S; Bernardi C; Akman HO; Tavian D Muscle Nerve; 2015 Apr; 51(4):609-13. PubMed ID: 25287355 [TBL] [Abstract][Full Text] [Related]
9. "The case of the yellow palms" and other syndromes in need of detection. Fredrickson DS Med Ann Dist Columbia; 1967 Apr; 36(4):207-11. PubMed ID: 5232847 [No Abstract] [Full Text] [Related]
11. A hereditary case of lipid storage myopathy with carnitine deficiency. Ultrastructural observation of muscle tissue in parents. Pellegrini G; Scarlato G; Moggio M J Neurol; 1980; 223(2):73-84. PubMed ID: 6157005 [TBL] [Abstract][Full Text] [Related]
12. Ichthyosis and neutral lipid storage disease. Williams ML; Koch TK; O'Donnell JJ; Frost PH; Epstein LB; Grizzard WS; Epstein CJ Am J Med Genet; 1985 Apr; 20(4):711-26. PubMed ID: 3993689 [TBL] [Abstract][Full Text] [Related]
13. [Lipid myopathy: a heterogenic familial case]. Kuntzer T; Robert D; Cox J; Meier C; Schwartz A; Guelpa G; Pfister CE Schweiz Med Wochenschr; 1987 Dec; 117(50):2027-9. PubMed ID: 3433086 [TBL] [Abstract][Full Text] [Related]
14. Hereditary myopathy with abnormal muscle mitochondria. D'Agostino AN; Ziter FA; Bray PF Trans Am Neurol Assoc; 1967; 92():222-4. PubMed ID: 5634042 [No Abstract] [Full Text] [Related]
19. [Diagnosis using PCR: the direct approach]. Schorderet DF; Pillet N Schweiz Rundsch Med Prax; 1994 May; 83(20):595-8. PubMed ID: 8209128 [TBL] [Abstract][Full Text] [Related]
20. Fatal lipid storage with abnormal mitochondria in an infant. Angelini C; Battistella PA; Laverda A; Pierobon-Bormioli S; Salviati G; Vergani L Acta Neuropathol Suppl; 1981; 7():221-5. PubMed ID: 6939240 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]