Mutations in INPP5K , Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Wiessner M., Roos A., Munn CJ., Viswanathan R., Whyte T., Cox D., Schoser B., Sewry C., Roper H., Phadke R., Marini Bettolo C., Barresi R., Charlton R., Bönnemann CG., Abath Neto O., Reed UC., Zanoteli E., Araújo Martins Moreno C., Ertl-Wagner B., Stucka R., De Goede C., Borges da Silva T., Hathazi D., Dell’Aica M., Zahedi RP., Thiele S., Müller J., Kingston H., Müller S., Curtis E., Walter MC., Strom TM., Straub V., Bushby K., Muntoni F., Swan LE., Lochmüller H., Senderek J.

DOI

10.1016/j.ajhg.2017.01.024

Type

Journal article

Publisher

Elsevier BV

Publication Date

2017-03-01T00:00:00+00:00

Volume

100

Pages

523 - 536

Total pages

13

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