Phenotypic heterogeneity in hereditary motor neuropathy type V: a new case report series

Author:

Pennisi Manuela,Raggi Alberto,Barone Rita,Muglia Maria,Citrigno Luigi,Cantone Mariagiovanna,Lanza Giuseppe,Pennisi Giovanni,Ferri Raffaele,Bella Rita

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,General Medicine

Reference35 articles.

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2. Irobi J, De Jonghe P, Timmermann V (2004) Molecular genetics of distal motor neuropathies. Hum Mol Genet 13((Spec No 2)):R195–R202

3. Auer-Grumbach M, Schlotter-Weigel B, Lochmüller H, Strobl-Wildemann G, Auer-Grumbach B et al (2005) Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. Ann Neurol 57:415–424

4. Berardinelli W (1954) An undiagnosed endocrinometabolic syndrome: report of 2 cases. J Clin Endocrinol Metab 14:193–204

5. Seip M (1959) Lipodystrophy and gigantism with associated endocrine manifestation. A new diencephalic syndrome? Acta Pediatr 48:555–574

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