An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant <it>POLG1</it> mutation
<p>Abstract</p> <p>Background</p> <p>The neuronal ceroid lipofuscinoses (NCLs, or Batten disease) comprise the most common Mendelian form of childhood-onset neurodegeneration, but the functions of the known underlying gene products remain poorly understood. The clinical...
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| Main Authors: | , , , , |
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| Format: | Book |
| Published: |
BMC,
2012-06-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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