✦ LIBER ✦

Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin

✍ Scribed by Asa Ljunggren; David Duggan; Elizabeth McNally; Kevin B. Boylan; Carlos H. Gama; Louis M. Kunkel; Dr Eric P. Hoffman

Publisher: John Wiley and Sons
Year: 1995
Tongue: English
Weight: 697 KB
Volume: 38
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.410380305

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Two distinct mutations in a single dystr

Two distinct mutations in a single dystrophin gene: Identification of an altered splice-site as the primary becker muscular dystrophy mutation

✍ Wilton, S. D. ;Johnsen, R. D. ;Pedretti, J. R. ;Laing, N. G. 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 706 KB

Deficiency of laminin α2-Chain mRNA in m

Deficiency of laminin α2-Chain mRNA in muscle in a patient with merosin-negative congenital muscular dystrophy

✍ Dr. Yukiko K. Hayashi; Dr. Ritsuko Koga; Dr. Toshifumi Tsukahara; Dr. Hiroko Ish 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 491 KB

Detection of point mutation in dystrophi

Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy

✍ Essen, Anthonie J. van ;Mulder, Inge M. ;Vlies, Pieter van der ;Hout, Annemarie 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 66 KB 👁 2 views

Mutation finding in patients with dysfer

Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies

✍ Rachele Cagliani; Francesca Magri; Antonio Toscano; Luciano Merlini; Francesco F 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 308 KB

Mutations in the DYSF gene underlie two main muscle diseases: Limb Girdle Muscular Dystrophy (LGMD) 2B and Miyoshi myopathy (MM). Dysferlin is involved in muscle membrane-repair and is thought to interact with other dysferlin molecules and annexins A1 and A2 at the sarcolemma. We performed genotype/

[3H]Nitrendipine receptors as markers of

[3H]Nitrendipine receptors as markers of a class of putative voltage-sensitive Ca2+ channels in normal human skeletal muscle and in muscle from duchenne muscular dystrophy patients

✍ Dr. Claude Desnuelle; Dr. Jean-François Renaud; Dr. Eric Delpont; Dr. Georges Se 📂 Article 📅 1986 🏛 John Wiley and Sons 🌐 English ⚖ 385 KB

Deficient helper cell function as a caus

Deficient helper cell function as a cause of diminished pokeweed mitogen blastogenic responses in patients with non-Hodgkin's lymphomas

✍ Bruce A. Silver; Frieda W. Bostick-Bruton; Leonard Neckers; Richard I. Fisher 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 753 KB