Native American myopathy with cleft palate, skeletal anomalies, and susceptability to malignant hypothermia.

Record Number: 
STAM001
Citation: 

Stamm, Demetra S.; Arthur S. Alysworth; Jeffery M. Stajich; Stephen G, Kahler; Leigh B. Thorus; Marcy C. Speer; and Cynthia M. Powell. "Native American myopathy with cleft palate, skeletal anomalies, and susceptability to malignant hypothermia." American Journal of Medical Genetics Part A 146A no. 14 (July 15, 2008): 1832-1841.

Annotation: 

This article is based on the lead author's dissertation research. For more details, see the annotation for her dissertation. This article provides useful tables and figures illustrating the conditions of the fourteen Lumbee patients Stamm studied. Table 1 summarizes the natural history, dysmorphology, and musculoskeletal features of the fourteen patients. Table 2 decribes the results of muscle biopsies of four of the patients. Figure 1A and 1B are color stains from a muscle biopsy of one patient. Figures 2A through 2I are photographs of the patients, showing the conditions caused by Native American myopathy (NAM). The article's summary places the mortality rate for NAM at 21% during the newborn period and extends it to 36% overall.

Key Source?: 
no
First Appeared in 1994 Book?: 
no
Publication Type: 
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