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74. Novel mutations in juvenile Sandhoff disease presenting as motor neuron disease

✍ Scribed by Tyler Mark Pierson; Bai Jin Zeng; Paola Torres; Gregory Pastores; Richard Finkel; Don Mahuran; Edwin Kolodny; Gihan Tennekoon

Book ID: 116988259
Publisher: Elsevier Science
Year: 2008
Tongue: English
Weight: 44 KB
Volume: 93
Category: Article
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2007.10.086

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## Communicated by Francesco Giannelli (NCV) were in the normal range, and there was no finding of nerve conduction block. His younger brother had also been affected by MND. He had developed muscle weakness of the right upper limb at age 52, followed by muscle weakness and atrophy of all limbs, an