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Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

โœ Scribed by J.M. Vance; G.A. Nicholson; L.H. Yamaoka; J. Stajich; C.S. Stewart; M.C. Speer; W.-Y. Hung; A.D. Roses; D. Barker; M.A. Pericak-Vance


Book ID
117101246
Publisher
Elsevier Science
Year
1989
Tongue
English
Weight
448 KB
Volume
104
Category
Article
ISSN
0014-4886

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Charcot-marie-tooth neuropathy related t
โœ Ionasescu, Victor V. ;Trofatter, James ;Haines, Jonathan L. ;Ionasescu, Rebecca ๐Ÿ“‚ Article ๐Ÿ“… 1992 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 439 KB

One family with documented male-to-male transmission of Charcot-Marie-Tooth (CMT) neuropathy was studied clinically and by genetic linkage. Patients had progressive distal weakness and atrophy, areflexia, and distal sensory loss, but early onset (before age 3 years) in all 5 cases, and phrenic nerve