Abstract

The molecular mechanisms of nemaline myopathy and related disorders (NMs) have been widely studied, whereas little scientific attention has been paid to the general health of the patients. We set out to study nutrition and food consumption and their correlation with self-experienced functioning and health in adult NM patients. We used food diaries and a food frequency questionnaire (D2D-FFQ) to study food consumption, internationally validated PROMIS®-questionnaires to study functioning, and laboratory analyses of nutritional parameters.

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