Tahun Terbit

1995

Edisi

1

ISBN/ISSN

979-444-325-5

Deskripsi Fisik

xviii,267p;ill;21 cm

No. Panggil

331.12 KAR p

The reduced diameter of skeletal myofibres is a hallmark of several congenital myopathies, yet the underlying cellular and molecular mechanisms remain elusive. In this study, we investigate the role of HACD1/PTPLA, which is involved in the elongation of the very long chain fatty acids, in muscle fibre formation. In humans and dogs, HACD1 deficiency leads to a congenital myopathy with fibre si…